SNP Links for Protein (Select 1034648640) - SNP

Select item 14900408381.

rs1490040838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49835414 (GRCh38)
6:49803127 (GRCh37)
Canonical SPDI:: NC_000006.12:49835413:A:T
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49835414A>T, NC_000006.11:g.49803127A>T, XM_011514315.4:c.346T>A, XM_011514315.3:c.346T>A, XM_011514315.2:c.346T>A, XM_011514315.1:c.346T>A, NM_001131.3:c.652T>A, NM_001131.2:c.652T>A, XM_017010320.3:c.346T>A, XM_017010320.2:c.346T>A, XM_017010320.1:c.346T>A, XM_017010321.3:c.346T>A, XM_017010321.2:c.346T>A, XM_017010321.1:c.346T>A, NM_001205220.2:c.652T>A, NM_001205220.1:c.652T>A, NM_170609.2:c.*26T>A, NM_170609.1:c.*26T>A, XP_011512617.1:p.Phe116Ile, NP_001122.2:p.Phe218Ile, XP_016865809.1:p.Phe116Ile, XP_016865810.1:p.Phe116Ile, NP_001192149.1:p.Phe218Ile

Select item 14897179632.

rs1489717963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49835400 (GRCh38)
6:49803113 (GRCh37)
Canonical SPDI:: NC_000006.12:49835399:T:C
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_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=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.49835400T>C, NC_000006.11:g.49803113T>C, XM_011514315.4:c.360A>G, XM_011514315.3:c.360A>G, XM_011514315.2:c.360A>G, XM_011514315.1:c.360A>G, NM_001131.3:c.666A>G, NM_001131.2:c.666A>G, XM_017010320.3:c.360A>G, XM_017010320.2:c.360A>G, XM_017010320.1:c.360A>G, XM_017010321.3:c.360A>G, XM_017010321.2:c.360A>G, XM_017010321.1:c.360A>G, NM_001205220.2:c.666A>G, NM_001205220.1:c.666A>G, NM_170609.2:c.*40A>G, NM_170609.1:c.*40A>G, XP_011512617.1:p.Ile120Met, NP_001122.2:p.Ile222Met, XP_016865809.1:p.Ile120Met, XP_016865810.1:p.Ile120Met, NP_001192149.1:p.Ile222Met

Select item 14792403633.

rs1479240363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:49846557 (GRCh38)
6:49814270 (GRCh37)
Canonical SPDI:: NC_000006.12:49846556:G:C
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49846557G>C, NC_000006.11:g.49814270G>C, XM_011514315.4:c.92C>G, XM_011514315.3:c.92C>G, XM_011514315.2:c.92C>G, XM_011514315.1:c.92C>G, NM_001131.3:c.398C>G, NM_001131.2:c.398C>G, XM_017010320.3:c.92C>G, XM_017010320.2:c.92C>G, XM_017010320.1:c.92C>G, XM_017010321.3:c.92C>G, XM_017010321.2:c.92C>G, XM_017010321.1:c.92C>G, NM_001205220.2:c.398C>G, NM_001205220.1:c.398C>G, NM_170609.2:c.398C>G, NM_170609.1:c.398C>G, XP_011512617.1:p.Thr31Arg, NP_001122.2:p.Thr133Arg, XP_016865809.1:p.Thr31Arg, XP_016865810.1:p.Thr31Arg, NP_001192149.1:p.Thr133Arg, NP_733758.1:p.Thr133Arg

Select item 14705692674.

rs1470569267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49840939 (GRCh38)
6:49808652 (GRCh37)
Canonical SPDI:: NC_000006.12:49840938:T:A
Gene:: CRISP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49840939T>A, NC_000006.11:g.49808652T>A, XM_011514315.4:c.186A>T, XM_011514315.3:c.186A>T, XM_011514315.2:c.186A>T, XM_011514315.1:c.186A>T, NM_001131.3:c.492A>T, NM_001131.2:c.492A>T, XM_017010320.3:c.186A>T, XM_017010320.2:c.186A>T, XM_017010320.1:c.186A>T, XM_017010321.3:c.186A>T, XM_017010321.2:c.186A>T, XM_017010321.1:c.186A>T, NM_001205220.2:c.492A>T, NM_001205220.1:c.492A>T, NM_170609.2:c.492A>T, NM_170609.1:c.492A>T, XP_011512617.1:p.Gln62His, NP_001122.2:p.Gln164His, XP_016865809.1:p.Gln62His, XP_016865810.1:p.Gln62His, NP_001192149.1:p.Gln164His, NP_733758.1:p.Gln164His

Select item 14584781215.

rs1458478121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49835404 (GRCh38)
6:49803117 (GRCh37)
Canonical SPDI:: NC_000006.12:49835403:T:A
Gene:: CRISP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49835404T>A, NC_000006.11:g.49803117T>A, XM_011514315.4:c.356A>T, XM_011514315.3:c.356A>T, XM_011514315.2:c.356A>T, XM_011514315.1:c.356A>T, NM_001131.3:c.662A>T, NM_001131.2:c.662A>T, XM_017010320.3:c.356A>T, XM_017010320.2:c.356A>T, XM_017010320.1:c.356A>T, XM_017010321.3:c.356A>T, XM_017010321.2:c.356A>T, XM_017010321.1:c.356A>T, NM_001205220.2:c.662A>T, NM_001205220.1:c.662A>T, NM_170609.2:c.*36A>T, NM_170609.1:c.*36A>T, XP_011512617.1:p.Asp119Val, NP_001122.2:p.Asp221Val, XP_016865809.1:p.Asp119Val, XP_016865810.1:p.Asp119Val, NP_001192149.1:p.Asp221Val

Select item 14584517756.

rs1458451775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:49846617 (GRCh38)
6:49814330 (GRCh37)
Canonical SPDI:: NC_000006.12:49846616:G:T
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.49846617G>T, NC_000006.11:g.49814330G>T, XM_011514315.4:c.32C>A, XM_011514315.3:c.32C>A, XM_011514315.2:c.32C>A, XM_011514315.1:c.32C>A, NM_001131.3:c.338C>A, NM_001131.2:c.338C>A, XM_017010320.3:c.32C>A, XM_017010320.2:c.32C>A, XM_017010320.1:c.32C>A, XM_017010321.3:c.32C>A, XM_017010321.2:c.32C>A, XM_017010321.1:c.32C>A, NM_001205220.2:c.338C>A, NM_001205220.1:c.338C>A, NM_170609.2:c.338C>A, NM_170609.1:c.338C>A, XP_011512617.1:p.Ser11Ter, NP_001122.2:p.Ser113Ter, XP_016865809.1:p.Ser11Ter, XP_016865810.1:p.Ser11Ter, NP_001192149.1:p.Ser113Ter, NP_733758.1:p.Ser113Ter

Select item 14504078977.

rs1450407897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49846547 (GRCh38)
6:49814260 (GRCh37)
Canonical SPDI:: NC_000006.12:49846546:A:T
Gene:: CRISP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49846547A>T, NC_000006.11:g.49814260A>T, XM_011514315.4:c.102T>A, XM_011514315.3:c.102T>A, XM_011514315.2:c.102T>A, XM_011514315.1:c.102T>A, NM_001131.3:c.408T>A, NM_001131.2:c.408T>A, XM_017010320.3:c.102T>A, XM_017010320.2:c.102T>A, XM_017010320.1:c.102T>A, XM_017010321.3:c.102T>A, XM_017010321.2:c.102T>A, XM_017010321.1:c.102T>A, NM_001205220.2:c.408T>A, NM_001205220.1:c.408T>A, NM_170609.2:c.408T>A, NM_170609.1:c.408T>A, XP_011512617.1:p.Asp34Glu, NP_001122.2:p.Asp136Glu, XP_016865809.1:p.Asp34Glu, XP_016865810.1:p.Asp34Glu, NP_001192149.1:p.Asp136Glu, NP_733758.1:p.Asp136Glu

Select item 14444909348.

rs1444490934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49846626 (GRCh38)
6:49814339 (GRCh37)
Canonical SPDI:: NC_000006.12:49846625:A:G
Gene:: CRISP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.49846626A>G, NC_000006.11:g.49814339A>G, XM_011514315.4:c.23T>C, XM_011514315.3:c.23T>C, XM_011514315.2:c.23T>C, XM_011514315.1:c.23T>C, NM_001131.3:c.329T>C, NM_001131.2:c.329T>C, XM_017010320.3:c.23T>C, XM_017010320.2:c.23T>C, XM_017010320.1:c.23T>C, XM_017010321.3:c.23T>C, XM_017010321.2:c.23T>C, XM_017010321.1:c.23T>C, NM_001205220.2:c.329T>C, NM_001205220.1:c.329T>C, NM_170609.2:c.329T>C, NM_170609.1:c.329T>C, XP_011512617.1:p.Val8Ala, NP_001122.2:p.Val110Ala, XP_016865809.1:p.Val8Ala, XP_016865810.1:p.Val8Ala, NP_001192149.1:p.Val110Ala, NP_733758.1:p.Val110Ala

Select item 14405656909.

rs1440565690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49846619 (GRCh38)
6:49814332 (GRCh37)
Canonical SPDI:: NC_000006.12:49846618:C:T
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49846619C>T, NC_000006.11:g.49814332C>T, XM_011514315.4:c.30G>A, XM_011514315.3:c.30G>A, XM_011514315.2:c.30G>A, XM_011514315.1:c.30G>A, NM_001131.3:c.336G>A, NM_001131.2:c.336G>A, XM_017010320.3:c.30G>A, XM_017010320.2:c.30G>A, XM_017010320.1:c.30G>A, XM_017010321.3:c.30G>A, XM_017010321.2:c.30G>A, XM_017010321.1:c.30G>A, NM_001205220.2:c.336G>A, NM_001205220.1:c.336G>A, NM_170609.2:c.336G>A, NM_170609.1:c.336G>A, XP_011512617.1:p.Trp10Ter, NP_001122.2:p.Trp112Ter, XP_016865809.1:p.Trp10Ter, XP_016865810.1:p.Trp10Ter, NP_001192149.1:p.Trp112Ter, NP_733758.1:p.Trp112Ter

Select item 142461170810.

rs1424611708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49840984 (GRCh38)
6:49808697 (GRCh37)
Canonical SPDI:: NC_000006.12:49840983:G:A
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49840984G>A, NC_000006.11:g.49808697G>A, XM_011514315.4:c.141C>T, XM_011514315.3:c.141C>T, XM_011514315.2:c.141C>T, XM_011514315.1:c.141C>T, NM_001131.3:c.447C>T, NM_001131.2:c.447C>T, XM_017010320.3:c.141C>T, XM_017010320.2:c.141C>T, XM_017010320.1:c.141C>T, XM_017010321.3:c.141C>T, XM_017010321.2:c.141C>T, XM_017010321.1:c.141C>T, NM_001205220.2:c.447C>T, NM_001205220.1:c.447C>T, NM_170609.2:c.447C>T, NM_170609.1:c.447C>T

Select item 142021103511.

rs1420211035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49846562 (GRCh38)
6:49814275 (GRCh37)
Canonical SPDI:: NC_000006.12:49846561:C:T
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.49846562C>T, NC_000006.11:g.49814275C>T, XM_011514315.4:c.87G>A, XM_011514315.3:c.87G>A, XM_011514315.2:c.87G>A, XM_011514315.1:c.87G>A, NM_001131.3:c.393G>A, NM_001131.2:c.393G>A, XM_017010320.3:c.87G>A, XM_017010320.2:c.87G>A, XM_017010320.1:c.87G>A, XM_017010321.3:c.87G>A, XM_017010321.2:c.87G>A, XM_017010321.1:c.87G>A, NM_001205220.2:c.393G>A, NM_001205220.1:c.393G>A, NM_170609.2:c.393G>A, NM_170609.1:c.393G>A, XP_011512617.1:p.Trp29Ter, NP_001122.2:p.Trp131Ter, XP_016865809.1:p.Trp29Ter, XP_016865810.1:p.Trp29Ter, NP_001192149.1:p.Trp131Ter, NP_733758.1:p.Trp131Ter

Select item 140261263212.

rs1402612632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:49838494 (GRCh38)
6:49806207 (GRCh37)
Canonical SPDI:: NC_000006.12:49838493:A:C,NC_000006.12:49838493:A:G
Gene:: CRISP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49838494A>C, NC_000006.12:g.49838494A>G, NC_000006.11:g.49806207A>C, NC_000006.11:g.49806207A>G, XM_011514315.4:c.259T>G, XM_011514315.4:c.259T>C, XM_011514315.3:c.259T>G, XM_011514315.3:c.259T>C, XM_011514315.2:c.259T>G, XM_011514315.2:c.259T>C, XM_011514315.1:c.259T>G, XM_011514315.1:c.259T>C, NM_001131.3:c.565T>G, NM_001131.3:c.565T>C, NM_001131.2:c.565T>G, NM_001131.2:c.565T>C, XM_017010320.3:c.259T>G, XM_017010320.3:c.259T>C, XM_017010320.2:c.259T>G, XM_017010320.2:c.259T>C, XM_017010320.1:c.259T>G, XM_017010320.1:c.259T>C, XM_017010321.3:c.259T>G, XM_017010321.3:c.259T>C, XM_017010321.2:c.259T>G, XM_017010321.2:c.259T>C, XM_017010321.1:c.259T>G, XM_017010321.1:c.259T>C, NM_001205220.2:c.565T>G, NM_001205220.2:c.565T>C, NM_001205220.1:c.565T>G, NM_001205220.1:c.565T>C, XP_011512617.1:p.Tyr87Asp, XP_011512617.1:p.Tyr87His, NP_001122.2:p.Tyr189Asp, NP_001122.2:p.Tyr189His, XP_016865809.1:p.Tyr87Asp, XP_016865809.1:p.Tyr87His, XP_016865810.1:p.Tyr87Asp, XP_016865810.1:p.Tyr87His, NP_001192149.1:p.Tyr189Asp, NP_001192149.1:p.Tyr189His

Select item 140098756013.

rs1400987560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:49835438 (GRCh38)
6:49803151 (GRCh37)
Canonical SPDI:: NC_000006.12:49835437:G:A,NC_000006.12:49835437:G:C
Gene:: CRISP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49835438G>A, NC_000006.12:g.49835438G>C, NC_000006.11:g.49803151G>A, NC_000006.11:g.49803151G>C, XM_011514315.4:c.322C>T, XM_011514315.4:c.322C>G, XM_011514315.3:c.322C>T, XM_011514315.3:c.322C>G, XM_011514315.2:c.322C>T, XM_011514315.2:c.322C>G, XM_011514315.1:c.322C>T, XM_011514315.1:c.322C>G, NM_001131.3:c.628C>T, NM_001131.3:c.628C>G, NM_001131.2:c.628C>T, NM_001131.2:c.628C>G, XM_017010320.3:c.322C>T, XM_017010320.3:c.322C>G, XM_017010320.2:c.322C>T, XM_017010320.2:c.322C>G, XM_017010320.1:c.322C>T, XM_017010320.1:c.322C>G, XM_017010321.3:c.322C>T, XM_017010321.3:c.322C>G, XM_017010321.2:c.322C>T, XM_017010321.2:c.322C>G, XM_017010321.1:c.322C>T, XM_017010321.1:c.322C>G, NM_001205220.2:c.628C>T, NM_001205220.2:c.628C>G, NM_001205220.1:c.628C>T, NM_001205220.1:c.628C>G, NM_170609.2:c.*2C>T, NM_170609.2:c.*2C>G, NM_170609.1:c.*2C>T, NM_170609.1:c.*2C>G, XP_011512617.1:p.Pro108Ser, XP_011512617.1:p.Pro108Ala, NP_001122.2:p.Pro210Ser, NP_001122.2:p.Pro210Ala, XP_016865809.1:p.Pro108Ser, XP_016865809.1:p.Pro108Ala, XP_016865810.1:p.Pro108Ser, XP_016865810.1:p.Pro108Ala, NP_001192149.1:p.Pro210Ser, NP_001192149.1:p.Pro210Ala

Select item 140060872314.

rs1400608723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49846631 (GRCh38)
6:49814344 (GRCh37)
Canonical SPDI:: NC_000006.12:49846630:A:T
Gene:: CRISP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000006.12:g.49846631A>T, NC_000006.11:g.49814344A>T, XM_011514315.4:c.18T>A, XM_011514315.3:c.18T>A, XM_011514315.2:c.18T>A, XM_011514315.1:c.18T>A, NM_001131.3:c.324T>A, NM_001131.2:c.324T>A, XM_017010320.3:c.18T>A, XM_017010320.2:c.18T>A, XM_017010320.1:c.18T>A, XM_017010321.3:c.18T>A, XM_017010321.2:c.18T>A, XM_017010321.1:c.18T>A, NM_001205220.2:c.324T>A, NM_001205220.1:c.324T>A, NM_170609.2:c.324T>A, NM_170609.1:c.324T>A, XP_011512617.1:p.Tyr6Ter, NP_001122.2:p.Tyr108Ter, XP_016865809.1:p.Tyr6Ter, XP_016865810.1:p.Tyr6Ter, NP_001192149.1:p.Tyr108Ter, NP_733758.1:p.Tyr108Ter

Select item 138960830915.

rs1389608309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:49835366 (GRCh38)
6:49803079 (GRCh37)
Canonical SPDI:: NC_000006.12:49835365:T:C,NC_000006.12:49835365:T:G
Gene:: CRISP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.49835366T>C, NC_000006.12:g.49835366T>G, NC_000006.11:g.49803079T>C, NC_000006.11:g.49803079T>G, XM_011514315.4:c.394A>G, XM_011514315.4:c.394A>C, XM_011514315.3:c.394A>G, XM_011514315.3:c.394A>C, XM_011514315.2:c.394A>G, XM_011514315.2:c.394A>C, XM_011514315.1:c.394A>G, XM_011514315.1:c.394A>C, NM_001131.3:c.700A>G, NM_001131.3:c.700A>C, NM_001131.2:c.700A>G, NM_001131.2:c.700A>C, XM_017010320.3:c.394A>G, XM_017010320.3:c.394A>C, XM_017010320.2:c.394A>G, XM_017010320.2:c.394A>C, XM_017010320.1:c.394A>G, XM_017010320.1:c.394A>C, XM_017010321.3:c.394A>G, XM_017010321.3:c.394A>C, XM_017010321.2:c.394A>G, XM_017010321.2:c.394A>C, XM_017010321.1:c.394A>G, XM_017010321.1:c.394A>C, NM_001205220.2:c.700A>G, NM_001205220.2:c.700A>C, NM_001205220.1:c.700A>G, NM_001205220.1:c.700A>C, NM_170609.2:c.*74A>G, NM_170609.2:c.*74A>C, NM_170609.1:c.*74A>G, NM_170609.1:c.*74A>C, XP_011512617.1:p.Thr132Ala, XP_011512617.1:p.Thr132Pro, NP_001122.2:p.Thr234Ala, NP_001122.2:p.Thr234Pro, XP_016865809.1:p.Thr132Ala, XP_016865809.1:p.Thr132Pro, XP_016865810.1:p.Thr132Ala, XP_016865810.1:p.Thr132Pro, NP_001192149.1:p.Thr234Ala, NP_001192149.1:p.Thr234Pro

Select item 138367027116.

rs1383670271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49835341 (GRCh38)
6:49803054 (GRCh37)
Canonical SPDI:: NC_000006.12:49835340:C:T
Gene:: CRISP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49835341C>T, NC_000006.11:g.49803054C>T, XM_011514315.4:c.419G>A, XM_011514315.3:c.419G>A, XM_011514315.2:c.419G>A, XM_011514315.1:c.419G>A, NM_001131.3:c.725G>A, NM_001131.2:c.725G>A, XM_017010320.3:c.419G>A, XM_017010320.2:c.419G>A, XM_017010320.1:c.419G>A, XM_017010321.3:c.419G>A, XM_017010321.2:c.419G>A, XM_017010321.1:c.419G>A, NM_001205220.2:c.725G>A, NM_001205220.1:c.725G>A, NM_170609.2:c.*99G>A, NM_170609.1:c.*99G>A, XP_011512617.1:p.Cys140Tyr, NP_001122.2:p.Cys242Tyr, XP_016865809.1:p.Cys140Tyr, XP_016865810.1:p.Cys140Tyr, NP_001192149.1:p.Cys242Tyr

Select item 137996154117.

rs1379961541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:49846560 (GRCh38)
6:49814273 (GRCh37)
Canonical SPDI:: NC_000006.12:49846559:G:C
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000096/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49846560G>C, NC_000006.11:g.49814273G>C, XM_011514315.4:c.89C>G, XM_011514315.3:c.89C>G, XM_011514315.2:c.89C>G, XM_011514315.1:c.89C>G, NM_001131.3:c.395C>G, NM_001131.2:c.395C>G, XM_017010320.3:c.89C>G, XM_017010320.2:c.89C>G, XM_017010320.1:c.89C>G, XM_017010321.3:c.89C>G, XM_017010321.2:c.89C>G, XM_017010321.1:c.89C>G, NM_001205220.2:c.395C>G, NM_001205220.1:c.395C>G, NM_170609.2:c.395C>G, NM_170609.1:c.395C>G, XP_011512617.1:p.Thr30Arg, NP_001122.2:p.Thr132Arg, XP_016865809.1:p.Thr30Arg, XP_016865810.1:p.Thr30Arg, NP_001192149.1:p.Thr132Arg, NP_733758.1:p.Thr132Arg

Select item 137689997318.

rs1376899973 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:49846564 (GRCh38)
6:49814277 (GRCh37)
Canonical SPDI:: NC_000006.12:49846563:AT:
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49846564_49846565del, NC_000006.11:g.49814277_49814278del, XM_011514315.4:c.84_85del, XM_011514315.3:c.84_85del, XM_011514315.2:c.84_85del, XM_011514315.1:c.84_85del, NM_001131.3:c.390_391del, NM_001131.2:c.390_391del, XM_017010320.3:c.84_85del, XM_017010320.2:c.84_85del, XM_017010320.1:c.84_85del, XM_017010321.3:c.84_85del, XM_017010321.2:c.84_85del, XM_017010321.1:c.84_85del, NM_001205220.2:c.390_391del, NM_001205220.1:c.390_391del, NM_170609.2:c.390_391del, NM_170609.1:c.390_391del, XP_011512617.1:p.Trp29fs, NP_001122.2:p.Trp131fs, XP_016865809.1:p.Trp29fs, XP_016865810.1:p.Trp29fs, NP_001192149.1:p.Trp131fs, NP_733758.1:p.Trp131fs

Select item 136359281519.

rs1363592815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49835320 (GRCh38)
6:49803033 (GRCh37)
Canonical SPDI:: NC_000006.12:49835319:T:A
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49835320T>A, NC_000006.11:g.49803033T>A, XM_011514315.4:c.440A>T, XM_011514315.3:c.440A>T, XM_011514315.2:c.440A>T, XM_011514315.1:c.440A>T, NM_001131.3:c.746A>T, NM_001131.2:c.746A>T, XM_017010320.3:c.440A>T, XM_017010320.2:c.440A>T, XM_017010320.1:c.440A>T, XM_017010321.3:c.440A>T, XM_017010321.2:c.440A>T, XM_017010321.1:c.440A>T, NM_001205220.2:c.746A>T, NM_001205220.1:c.746A>T, NM_170609.2:c.*120A>T, NM_170609.1:c.*120A>T, XP_011512617.1:p.Lys147Ile, NP_001122.2:p.Lys249Ile, XP_016865809.1:p.Lys147Ile, XP_016865810.1:p.Lys147Ile, NP_001192149.1:p.Lys249Ile

Select item 136187992220.

rs1361879922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49838493 (GRCh38)
6:49806206 (GRCh37)
Canonical SPDI:: NC_000006.12:49838492:T:C
Gene:: CRISP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.49838493T>C, NC_000006.11:g.49806206T>C, XM_011514315.4:c.260A>G, XM_011514315.3:c.260A>G, XM_011514315.2:c.260A>G, XM_011514315.1:c.260A>G, NM_001131.3:c.566A>G, NM_001131.2:c.566A>G, XM_017010320.3:c.260A>G, XM_017010320.2:c.260A>G, XM_017010320.1:c.260A>G, XM_017010321.3:c.260A>G, XM_017010321.2:c.260A>G, XM_017010321.1:c.260A>G, NM_001205220.2:c.566A>G, NM_001205220.1:c.566A>G, XP_011512617.1:p.Tyr87Cys, NP_001122.2:p.Tyr189Cys, XP_016865809.1:p.Tyr87Cys, XP_016865810.1:p.Tyr87Cys, NP_001192149.1:p.Tyr189Cys

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 159

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 159

Page of 8

Page of 8

Display Settings:

Supplemental Content

Find related data

Recent activity