SNP Links for Protein (Select 510937025) - SNP

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Links from Protein

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Select item 14904898591.

rs1490489859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:32708212 (GRCh38)
12:32861146 (GRCh37)
Canonical SPDI:: NC_000012.12:32708211:A:G
Gene:: DNM1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.32708212A>G, NC_000012.11:g.32861146A>G, NG_012219.1:g.34010A>G, NM_012062.5:c.357A>G, NM_012062.4:c.357A>G, NM_005690.5:c.357A>G, NM_005690.4:c.357A>G, NM_012063.4:c.357A>G, NM_012063.3:c.357A>G, NM_001278464.2:c.396A>G, NM_001278464.1:c.396A>G, NM_001278465.2:c.396A>G, NM_001278465.1:c.396A>G, NM_001278463.2:c.357A>G, NM_001278463.1:c.357A>G, NM_001330380.2:c.396A>G, NM_001330380.1:c.396A>G, XM_011520543.4:c.396A>G, XM_011520543.3:c.396A>G, XM_011520543.2:c.396A>G, XM_011520543.1:c.396A>G

Select item 14904405792.

rs1490440579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:32679375 (GRCh38)
12:32832309 (GRCh37)
Canonical SPDI:: NC_000012.12:32679374:A:C
Gene:: DNM1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32679375A>C, NC_000012.11:g.32832309A>C, NG_012219.1:g.5173A>C, NM_012062.5:c.12A>C, NM_012062.4:c.12A>C, NM_005690.5:c.12A>C, NM_005690.4:c.12A>C, NM_012063.4:c.12A>C, NM_012063.3:c.12A>C, NM_001278464.2:c.12A>C, NM_001278464.1:c.12A>C, NM_001278465.2:c.12A>C, NM_001278465.1:c.12A>C, NM_001278463.2:c.12A>C, NM_001278463.1:c.12A>C, NM_001330380.2:c.12A>C, NM_001330380.1:c.12A>C, NM_001278466.2:c.-194A>C, NM_001278466.1:c.-194A>C, XM_011520543.4:c.12A>C, XM_011520543.3:c.12A>C, XM_011520543.2:c.12A>C, XM_011520543.1:c.12A>C

Select item 14903272873.

rs1490327287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:32705854 (GRCh38)
12:32858788 (GRCh37)
Canonical SPDI:: NC_000012.12:32705853:C:T
Gene:: DNM1L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32705854C>T, NC_000012.11:g.32858788C>T, NG_012219.1:g.31652C>T, NM_001278464.2:c.280C>T, NM_001278464.1:c.280C>T, NM_001278465.2:c.280C>T, NM_001278465.1:c.280C>T, NM_001330380.2:c.280C>T, NM_001330380.1:c.280C>T, NM_001278466.2:c.75C>T, NM_001278466.1:c.75C>T, XM_011520543.4:c.280C>T, XM_011520543.3:c.280C>T, XM_011520543.2:c.280C>T, XM_011520543.1:c.280C>T, NP_001265393.1:p.Leu94Phe, NP_001265394.1:p.Leu94Phe, NP_001317309.1:p.Leu94Phe, XP_011518845.1:p.Leu94Phe

Select item 14893659814.

rs1489365981 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:32707411 (GRCh38)
12:32860345 (GRCh37)
Canonical SPDI:: NC_000012.12:32707410:A:C
Gene:: DNM1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.32707411A>C, NC_000012.11:g.32860345A>C, NG_012219.1:g.33209A>C, NM_012062.5:c.295A>C, NM_012062.4:c.295A>C, NM_005690.5:c.295A>C, NM_005690.4:c.295A>C, NM_012063.4:c.295A>C, NM_012063.3:c.295A>C, NM_001278464.2:c.334A>C, NM_001278464.1:c.334A>C, NM_001278465.2:c.334A>C, NM_001278465.1:c.334A>C, NM_001278463.2:c.295A>C, NM_001278463.1:c.295A>C, NM_001330380.2:c.334A>C, NM_001330380.1:c.334A>C, NM_001278466.2:c.129A>C, NM_001278466.1:c.129A>C, XM_011520543.4:c.334A>C, XM_011520543.3:c.334A>C, XM_011520543.2:c.334A>C, XM_011520543.1:c.334A>C, NP_036192.2:p.Lys99Gln, NP_005681.2:p.Lys99Gln, NP_036193.2:p.Lys99Gln, NP_001265393.1:p.Lys112Gln, NP_001265394.1:p.Lys112Gln, NP_001265392.1:p.Lys99Gln, NP_001317309.1:p.Lys112Gln, XP_011518845.1:p.Lys112Gln

Select item 14862374665.

rs1486237466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:32740232 (GRCh38)
12:32893166 (GRCh37)
Canonical SPDI:: NC_000012.12:32740231:C:G
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32740232C>G, NC_000012.11:g.32893166C>G, NG_012219.1:g.66030C>G, NM_012062.5:c.1876C>G, NM_012062.4:c.1876C>G, NM_005690.5:c.1765C>G, NM_005690.4:c.1765C>G, NM_012063.4:c.1798C>G, NM_012063.3:c.1798C>G, NM_001278464.2:c.1915C>G, NM_001278464.1:c.1915C>G, NM_001278465.2:c.1882C>G, NM_001278465.1:c.1882C>G, NM_001278463.2:c.1843C>G, NM_001278463.1:c.1843C>G, NM_001330380.2:c.1804C>G, NM_001330380.1:c.1804C>G, NM_001278466.2:c.1267C>G, NM_001278466.1:c.1267C>G, XM_011520543.4:c.1837C>G, XM_011520543.3:c.1837C>G, XM_011520543.2:c.1837C>G, XM_011520543.1:c.1837C>G, XM_047428047.1:c.1219C>G, NP_036192.2:p.Leu626Val, NP_005681.2:p.Leu589Val, NP_036193.2:p.Leu600Val, NP_001265393.1:p.Leu639Val, NP_001265394.1:p.Leu628Val, NP_001265392.1:p.Leu615Val, NP_001317309.1:p.Leu602Val, NP_001265395.1:p.Leu423Val, XP_011518845.1:p.Leu613Val, XP_047284003.1:p.Leu407Val

Select item 14817649466.

rs1481764946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:32718675 (GRCh38)
12:32871609 (GRCh37)
Canonical SPDI:: NC_000012.12:32718674:G:A,NC_000012.12:32718674:G:T
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.32718675G>A, NC_000012.12:g.32718675G>T, NC_000012.11:g.32871609G>A, NC_000012.11:g.32871609G>T, NG_012219.1:g.44473G>A, NG_012219.1:g.44473G>T, NM_012062.5:c.652G>A, NM_012062.5:c.652G>T, NM_012062.4:c.652G>A, NM_012062.4:c.652G>T, NM_005690.5:c.652G>A, NM_005690.5:c.652G>T, NM_005690.4:c.652G>A, NM_005690.4:c.652G>T, NM_012063.4:c.652G>A, NM_012063.4:c.652G>T, NM_012063.3:c.652G>A, NM_012063.3:c.652G>T, NM_001278464.2:c.691G>A, NM_001278464.2:c.691G>T, NM_001278464.1:c.691G>A, NM_001278464.1:c.691G>T, NM_001278465.2:c.691G>A, NM_001278465.2:c.691G>T, NM_001278465.1:c.691G>A, NM_001278465.1:c.691G>T, NM_001278463.2:c.652G>A, NM_001278463.2:c.652G>T, NM_001278463.1:c.652G>A, NM_001278463.1:c.652G>T, NM_001330380.2:c.691G>A, NM_001330380.2:c.691G>T, NM_001330380.1:c.691G>A, NM_001330380.1:c.691G>T, XM_011520543.4:c.691G>A, XM_011520543.4:c.691G>T, XM_011520543.3:c.691G>A, XM_011520543.3:c.691G>T, XM_011520543.2:c.691G>A, XM_011520543.2:c.691G>T, XM_011520543.1:c.691G>A, XM_011520543.1:c.691G>T, XM_047428047.1:c.-6G>A, XM_047428047.1:c.-6G>T, NP_036192.2:p.Asp218Asn, NP_036192.2:p.Asp218Tyr, NP_005681.2:p.Asp218Asn, NP_005681.2:p.Asp218Tyr, NP_036193.2:p.Asp218Asn, NP_036193.2:p.Asp218Tyr, NP_001265393.1:p.Asp231Asn, NP_001265393.1:p.Asp231Tyr, NP_001265394.1:p.Asp231Asn, NP_001265394.1:p.Asp231Tyr, NP_001265392.1:p.Asp218Asn, NP_001265392.1:p.Asp218Tyr, NP_001317309.1:p.Asp231Asn, NP_001317309.1:p.Asp231Tyr, XP_011518845.1:p.Asp231Asn, XP_011518845.1:p.Asp231Tyr

Select item 14790232017.

rs1479023201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:32722435 (GRCh38)
12:32875369 (GRCh37)
Canonical SPDI:: NC_000012.12:32722434:T:G
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32722435T>G, NC_000012.11:g.32875369T>G, NG_012219.1:g.48233T>G, NM_012062.5:c.881T>G, NM_012062.4:c.881T>G, NM_005690.5:c.881T>G, NM_005690.4:c.881T>G, NM_012063.4:c.881T>G, NM_012063.3:c.881T>G, NM_001278464.2:c.920T>G, NM_001278464.1:c.920T>G, NM_001278465.2:c.920T>G, NM_001278465.1:c.920T>G, NM_001278463.2:c.881T>G, NM_001278463.1:c.881T>G, NM_001330380.2:c.920T>G, NM_001330380.1:c.920T>G, NM_001278466.2:c.272T>G, NM_001278466.1:c.272T>G, XM_011520543.4:c.920T>G, XM_011520543.3:c.920T>G, XM_011520543.2:c.920T>G, XM_011520543.1:c.920T>G, XM_047428047.1:c.224T>G, NP_036192.2:p.Met294Arg, NP_005681.2:p.Met294Arg, NP_036193.2:p.Met294Arg, NP_001265393.1:p.Met307Arg, NP_001265394.1:p.Met307Arg, NP_001265392.1:p.Met294Arg, NP_001317309.1:p.Met307Arg, NP_001265395.1:p.Met91Arg, XP_011518845.1:p.Met307Arg, XP_047284003.1:p.Met75Arg

Select item 14742580308.

rs1474258030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:32737888 (GRCh38)
12:32890822 (GRCh37)
Canonical SPDI:: NC_000012.12:32737887:G:A
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000012.12:g.32737888G>A, NC_000012.11:g.32890822G>A, NG_012219.1:g.63686G>A, NM_012062.5:c.1620G>A, NM_012062.4:c.1620G>A, NM_001278464.2:c.1659G>A, NM_001278464.1:c.1659G>A, NM_001278465.2:c.1659G>A, NM_001278465.1:c.1659G>A, NM_001278463.2:c.1620G>A, NM_001278463.1:c.1620G>A, NM_001278466.2:c.1011G>A, NM_001278466.1:c.1011G>A, XM_047428047.1:c.963G>A

Select item 14733056269.

rs1473305626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:32710959 (GRCh38)
12:32863893 (GRCh37)
Canonical SPDI:: NC_000012.12:32710958:A:C,NC_000012.12:32710958:A:G
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32710959A>C, NC_000012.12:g.32710959A>G, NC_000012.11:g.32863893A>C, NC_000012.11:g.32863893A>G, NG_012219.1:g.36757A>C, NG_012219.1:g.36757A>G, NM_012062.5:c.400A>C, NM_012062.5:c.400A>G, NM_012062.4:c.400A>C, NM_012062.4:c.400A>G, NM_005690.5:c.400A>C, NM_005690.5:c.400A>G, NM_005690.4:c.400A>C, NM_005690.4:c.400A>G, NM_012063.4:c.400A>C, NM_012063.4:c.400A>G, NM_012063.3:c.400A>C, NM_012063.3:c.400A>G, NM_001278464.2:c.439A>C, NM_001278464.2:c.439A>G, NM_001278464.1:c.439A>C, NM_001278464.1:c.439A>G, NM_001278465.2:c.439A>C, NM_001278465.2:c.439A>G, NM_001278465.1:c.439A>C, NM_001278465.1:c.439A>G, NM_001278463.2:c.400A>C, NM_001278463.2:c.400A>G, NM_001278463.1:c.400A>C, NM_001278463.1:c.400A>G, NM_001330380.2:c.439A>C, NM_001330380.2:c.439A>G, NM_001330380.1:c.439A>C, NM_001330380.1:c.439A>G, XM_011520543.4:c.439A>C, XM_011520543.4:c.439A>G, XM_011520543.3:c.439A>C, XM_011520543.3:c.439A>G, XM_011520543.2:c.439A>C, XM_011520543.2:c.439A>G, XM_011520543.1:c.439A>C, XM_011520543.1:c.439A>G, XM_047428047.1:c.-95A>C, XM_047428047.1:c.-95A>G, NP_036192.2:p.Ile134Leu, NP_036192.2:p.Ile134Val, NP_005681.2:p.Ile134Leu, NP_005681.2:p.Ile134Val, NP_036193.2:p.Ile134Leu, NP_036193.2:p.Ile134Val, NP_001265393.1:p.Ile147Leu, NP_001265393.1:p.Ile147Val, NP_001265394.1:p.Ile147Leu, NP_001265394.1:p.Ile147Val, NP_001265392.1:p.Ile134Leu, NP_001265392.1:p.Ile134Val, NP_001317309.1:p.Ile147Leu, NP_001317309.1:p.Ile147Val, XP_011518845.1:p.Ile147Leu, XP_011518845.1:p.Ile147Val

Select item 147115233910.

rs1471152339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:32679385 (GRCh38)
12:32832319 (GRCh37)
Canonical SPDI:: NC_000012.12:32679384:A:C
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.32679385A>C, NC_000012.11:g.32832319A>C, NG_012219.1:g.5183A>C, NM_012062.5:c.22A>C, NM_012062.4:c.22A>C, NM_005690.5:c.22A>C, NM_005690.4:c.22A>C, NM_012063.4:c.22A>C, NM_012063.3:c.22A>C, NM_001278464.2:c.22A>C, NM_001278464.1:c.22A>C, NM_001278465.2:c.22A>C, NM_001278465.1:c.22A>C, NM_001278463.2:c.22A>C, NM_001278463.1:c.22A>C, NM_001330380.2:c.22A>C, NM_001330380.1:c.22A>C, NM_001278466.2:c.-184A>C, NM_001278466.1:c.-184A>C, XM_011520543.4:c.22A>C, XM_011520543.3:c.22A>C, XM_011520543.2:c.22A>C, XM_011520543.1:c.22A>C, NP_036192.2:p.Ile8Leu, NP_005681.2:p.Ile8Leu, NP_036193.2:p.Ile8Leu, NP_001265393.1:p.Ile8Leu, NP_001265394.1:p.Ile8Leu, NP_001265392.1:p.Ile8Leu, NP_001317309.1:p.Ile8Leu, XP_011518845.1:p.Ile8Leu

Select item 147045617611.

rs1470456176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:32740112 (GRCh38)
12:32893046 (GRCh37)
Canonical SPDI:: NC_000012.12:32740111:A:G
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.32740112A>G, NC_000012.11:g.32893046A>G, NG_012219.1:g.65910A>G, NM_012062.5:c.1756A>G, NM_012062.4:c.1756A>G, NM_005690.5:c.1645A>G, NM_005690.4:c.1645A>G, NM_012063.4:c.1678A>G, NM_012063.3:c.1678A>G, NM_001278464.2:c.1795A>G, NM_001278464.1:c.1795A>G, NM_001278465.2:c.1762A>G, NM_001278465.1:c.1762A>G, NM_001278463.2:c.1723A>G, NM_001278463.1:c.1723A>G, NM_001330380.2:c.1684A>G, NM_001330380.1:c.1684A>G, NM_001278466.2:c.1147A>G, NM_001278466.1:c.1147A>G, XM_011520543.4:c.1717A>G, XM_011520543.3:c.1717A>G, XM_011520543.2:c.1717A>G, XM_011520543.1:c.1717A>G, XM_047428047.1:c.1099A>G, NP_036192.2:p.Thr586Ala, NP_005681.2:p.Thr549Ala, NP_036193.2:p.Thr560Ala, NP_001265393.1:p.Thr599Ala, NP_001265394.1:p.Thr588Ala, NP_001265392.1:p.Thr575Ala, NP_001317309.1:p.Thr562Ala, NP_001265395.1:p.Thr383Ala, XP_011518845.1:p.Thr573Ala, XP_047284003.1:p.Thr367Ala

Select item 147012276612.

rs1470122766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:32740483 (GRCh38)
12:32893417 (GRCh37)
Canonical SPDI:: NC_000012.12:32740482:A:C,NC_000012.12:32740482:A:G
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.0003/1 (KOREAN)
HGVS:: NC_000012.12:g.32740483A>C, NC_000012.12:g.32740483A>G, NC_000012.11:g.32893417A>C, NC_000012.11:g.32893417A>G, NG_012219.1:g.66281A>C, NG_012219.1:g.66281A>G, NM_012062.5:c.1959A>C, NM_012062.5:c.1959A>G, NM_012062.4:c.1959A>C, NM_012062.4:c.1959A>G, NM_005690.5:c.1848A>C, NM_005690.5:c.1848A>G, NM_005690.4:c.1848A>C, NM_005690.4:c.1848A>G, NM_012063.4:c.1881A>C, NM_012063.4:c.1881A>G, NM_012063.3:c.1881A>C, NM_012063.3:c.1881A>G, NM_001278464.2:c.1998A>C, NM_001278464.2:c.1998A>G, NM_001278464.1:c.1998A>C, NM_001278464.1:c.1998A>G, NM_001278465.2:c.1965A>C, NM_001278465.2:c.1965A>G, NM_001278465.1:c.1965A>C, NM_001278465.1:c.1965A>G, NM_001278463.2:c.1926A>C, NM_001278463.2:c.1926A>G, NM_001278463.1:c.1926A>C, NM_001278463.1:c.1926A>G, NM_001330380.2:c.1887A>C, NM_001330380.2:c.1887A>G, NM_001330380.1:c.1887A>C, NM_001330380.1:c.1887A>G, NM_001278466.2:c.1350A>C, NM_001278466.2:c.1350A>G, NM_001278466.1:c.1350A>C, NM_001278466.1:c.1350A>G, XM_011520543.4:c.1920A>C, XM_011520543.4:c.1920A>G, XM_011520543.3:c.1920A>C, XM_011520543.3:c.1920A>G, XM_011520543.2:c.1920A>C, XM_011520543.2:c.1920A>G, XM_011520543.1:c.1920A>C, XM_011520543.1:c.1920A>G, XM_047428047.1:c.1302A>C, XM_047428047.1:c.1302A>G

Select item 146879496513.

rs1468794965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:32701552 (GRCh38)
12:32854486 (GRCh37)
Canonical SPDI:: NC_000012.12:32701551:A:T
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32701552A>T, NC_000012.11:g.32854486A>T, NG_012219.1:g.27350A>T, NM_012062.5:c.240A>T, NM_012062.4:c.240A>T, NM_005690.5:c.240A>T, NM_005690.4:c.240A>T, NM_012063.4:c.240A>T, NM_012063.3:c.240A>T, NM_001278464.2:c.240A>T, NM_001278464.1:c.240A>T, NM_001278465.2:c.240A>T, NM_001278465.1:c.240A>T, NM_001278463.2:c.240A>T, NM_001278463.1:c.240A>T, NM_001330380.2:c.240A>T, NM_001330380.1:c.240A>T, NM_001278466.2:c.35A>T, NM_001278466.1:c.35A>T, XM_011520543.4:c.240A>T, XM_011520543.3:c.240A>T, XM_011520543.2:c.240A>T, XM_011520543.1:c.240A>T, NP_001265395.1:p.Glu12Val

Select item 146720349614.

rs1467203496 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:32722588 (GRCh38)
12:32875522 (GRCh37)
Canonical SPDI:: NC_000012.12:32722587:G:
Gene:: DNM1L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.32722588del, NC_000012.11:g.32875522del, NG_012219.1:g.48386del, NM_012062.5:c.1034del, NM_012062.4:c.1034del, NM_005690.5:c.1034del, NM_005690.4:c.1034del, NM_012063.4:c.1034del, NM_012063.3:c.1034del, NM_001278464.2:c.1073del, NM_001278464.1:c.1073del, NM_001278465.2:c.1073del, NM_001278465.1:c.1073del, NM_001278463.2:c.1034del, NM_001278463.1:c.1034del, NM_001330380.2:c.1073del, NM_001330380.1:c.1073del, NM_001278466.2:c.425del, NM_001278466.1:c.425del, XM_011520543.4:c.1073del, XM_011520543.3:c.1073del, XM_011520543.2:c.1073del, XM_011520543.1:c.1073del, XM_047428047.1:c.377del, NP_036192.2:p.Cys345fs, NP_005681.2:p.Cys345fs, NP_036193.2:p.Cys345fs, NP_001265393.1:p.Cys358fs, NP_001265394.1:p.Cys358fs, NP_001265392.1:p.Cys345fs, NP_001317309.1:p.Cys358fs, NP_001265395.1:p.Cys142fs, XP_011518845.1:p.Cys358fs, XP_047284003.1:p.Cys126fs

Select item 146681147915.

rs1466811479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:32737145 (GRCh38)
12:32890079 (GRCh37)
Canonical SPDI:: NC_000012.12:32737144:C:T
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32737145C>T, NC_000012.11:g.32890079C>T, NG_012219.1:g.62943C>T, NM_012062.5:c.1580C>T, NM_012062.4:c.1580C>T, NM_005690.5:c.1580C>T, NM_005690.4:c.1580C>T, NM_012063.4:c.1580C>T, NM_012063.3:c.1580C>T, NM_001278464.2:c.1619C>T, NM_001278464.1:c.1619C>T, NM_001278465.2:c.1619C>T, NM_001278465.1:c.1619C>T, NM_001278463.2:c.1580C>T, NM_001278463.1:c.1580C>T, NM_001330380.2:c.1619C>T, NM_001330380.1:c.1619C>T, NM_001278466.2:c.971C>T, NM_001278466.1:c.971C>T, XM_011520543.4:c.1619C>T, XM_011520543.3:c.1619C>T, XM_011520543.2:c.1619C>T, XM_011520543.1:c.1619C>T, XM_047428047.1:c.923C>T, NP_036192.2:p.Ala527Val, NP_005681.2:p.Ala527Val, NP_036193.2:p.Ala527Val, NP_001265393.1:p.Ala540Val, NP_001265394.1:p.Ala540Val, NP_001265392.1:p.Ala527Val, NP_001317309.1:p.Ala540Val, NP_001265395.1:p.Ala324Val, XP_011518845.1:p.Ala540Val, XP_047284003.1:p.Ala308Val

Select item 146455719716.

rs1464557197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:32701438 (GRCh38)
12:32854372 (GRCh37)
Canonical SPDI:: NC_000012.12:32701437:A:G
Gene:: DNM1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.32701438A>G, NC_000012.11:g.32854372A>G, NG_012219.1:g.27236A>G, NM_012062.5:c.126A>G, NM_012062.4:c.126A>G, NM_005690.5:c.126A>G, NM_005690.4:c.126A>G, NM_012063.4:c.126A>G, NM_012063.3:c.126A>G, NM_001278464.2:c.126A>G, NM_001278464.1:c.126A>G, NM_001278465.2:c.126A>G, NM_001278465.1:c.126A>G, NM_001278463.2:c.126A>G, NM_001278463.1:c.126A>G, NM_001330380.2:c.126A>G, NM_001330380.1:c.126A>G, NM_001278466.2:c.-80A>G, NM_001278466.1:c.-80A>G, XM_011520543.4:c.126A>G, XM_011520543.3:c.126A>G, XM_011520543.2:c.126A>G, XM_011520543.1:c.126A>G

Select item 146291438917.

rs1462914389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:32713369 (GRCh38)
12:32866303 (GRCh37)
Canonical SPDI:: NC_000012.12:32713368:A:G
Gene:: DNM1L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.32713369A>G, NC_000012.11:g.32866303A>G, NG_012219.1:g.39167A>G, NM_012062.5:c.617A>G, NM_012062.4:c.617A>G, NM_005690.5:c.617A>G, NM_005690.4:c.617A>G, NM_012063.4:c.617A>G, NM_012063.3:c.617A>G, NM_001278464.2:c.656A>G, NM_001278464.1:c.656A>G, NM_001278465.2:c.656A>G, NM_001278465.1:c.656A>G, NM_001278463.2:c.617A>G, NM_001278463.1:c.617A>G, NM_001330380.2:c.656A>G, NM_001330380.1:c.656A>G, XM_011520543.4:c.656A>G, XM_011520543.3:c.656A>G, XM_011520543.2:c.656A>G, XM_011520543.1:c.656A>G, NP_036192.2:p.Asp206Gly, NP_005681.2:p.Asp206Gly, NP_036193.2:p.Asp206Gly, NP_001265393.1:p.Asp219Gly, NP_001265394.1:p.Asp219Gly, NP_001265392.1:p.Asp206Gly, NP_001317309.1:p.Asp219Gly, XP_011518845.1:p.Asp219Gly

Select item 146148615618.

rs1461486156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:32737122 (GRCh38)
12:32890056 (GRCh37)
Canonical SPDI:: NC_000012.12:32737121:G:A
Gene:: DNM1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.32737122G>A, NC_000012.11:g.32890056G>A, NG_012219.1:g.62920G>A, NM_012062.5:c.1557G>A, NM_012062.4:c.1557G>A, NM_005690.5:c.1557G>A, NM_005690.4:c.1557G>A, NM_012063.4:c.1557G>A, NM_012063.3:c.1557G>A, NM_001278464.2:c.1596G>A, NM_001278464.1:c.1596G>A, NM_001278465.2:c.1596G>A, NM_001278465.1:c.1596G>A, NM_001278463.2:c.1557G>A, NM_001278463.1:c.1557G>A, NM_001330380.2:c.1596G>A, NM_001330380.1:c.1596G>A, NM_001278466.2:c.948G>A, NM_001278466.1:c.948G>A, XM_011520543.4:c.1596G>A, XM_011520543.3:c.1596G>A, XM_011520543.2:c.1596G>A, XM_011520543.1:c.1596G>A, XM_047428047.1:c.900G>A

Select item 146001913519.

rs1460019135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:32707399 (GRCh38)
12:32860333 (GRCh37)
Canonical SPDI:: NC_000012.12:32707398:C:T
Gene:: DNM1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.32707399C>T, NC_000012.11:g.32860333C>T, NG_012219.1:g.33197C>T, NM_012062.5:c.283C>T, NM_012062.4:c.283C>T, NM_005690.5:c.283C>T, NM_005690.4:c.283C>T, NM_012063.4:c.283C>T, NM_012063.3:c.283C>T, NM_001278464.2:c.322C>T, NM_001278464.1:c.322C>T, NM_001278465.2:c.322C>T, NM_001278465.1:c.322C>T, NM_001278463.2:c.283C>T, NM_001278463.1:c.283C>T, NM_001330380.2:c.322C>T, NM_001330380.1:c.322C>T, NM_001278466.2:c.117C>T, NM_001278466.1:c.117C>T, XM_011520543.4:c.322C>T, XM_011520543.3:c.322C>T, XM_011520543.2:c.322C>T, XM_011520543.1:c.322C>T, NP_036192.2:p.His95Tyr, NP_005681.2:p.His95Tyr, NP_036193.2:p.His95Tyr, NP_001265393.1:p.His108Tyr, NP_001265394.1:p.His108Tyr, NP_001265392.1:p.His95Tyr, NP_001317309.1:p.His108Tyr, XP_011518845.1:p.His108Tyr

Select item 145749643420.

rs1457496434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:32743354 (GRCh38)
12:32896288 (GRCh37)
Canonical SPDI:: NC_000012.12:32743353:G:T
Gene:: DNM1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.32743354G>T, NC_000012.11:g.32896288G>T, NG_012219.1:g.69152G>T, NM_012062.5:c.2155G>T, NM_012062.4:c.2155G>T, NM_005690.5:c.2044G>T, NM_005690.4:c.2044G>T, NM_012063.4:c.2077G>T, NM_012063.3:c.2077G>T, NM_001278464.2:c.2194G>T, NM_001278464.1:c.2194G>T, NM_001278465.2:c.2161G>T, NM_001278465.1:c.2161G>T, NM_001278463.2:c.2122G>T, NM_001278463.1:c.2122G>T, NM_001330380.2:c.2083G>T, NM_001330380.1:c.2083G>T, NM_001278466.2:c.1546G>T, NM_001278466.1:c.1546G>T, XM_011520543.4:c.2116G>T, XM_011520543.3:c.2116G>T, XM_011520543.2:c.2116G>T, XM_011520543.1:c.2116G>T, XM_047428047.1:c.1498G>T, NP_036192.2:p.Ala719Ser, NP_005681.2:p.Ala682Ser, NP_036193.2:p.Ala693Ser, NP_001265393.1:p.Ala732Ser, NP_001265394.1:p.Ala721Ser, NP_001265392.1:p.Ala708Ser, NP_001317309.1:p.Ala695Ser, NP_001265395.1:p.Ala516Ser, XP_011518845.1:p.Ala706Ser, XP_047284003.1:p.Ala500Ser

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