SNP Links for Protein (Select 768003936) - SNP

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Links from Protein

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Select item 14899950131.

rs1489995013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:10924166 (GRCh38)
19:11034842 (GRCh37)
Canonical SPDI:: NC_000019.10:10924165:C:G
Gene:: YIPF2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10924166C>G, NC_000019.9:g.11034842C>G, NM_024029.5:c.394G>C, NM_024029.4:c.394G>C, NM_024029.3:c.394G>C, XM_011528270.3:c.394G>C, XM_011528270.2:c.394G>C, XM_011528270.1:c.394G>C, XM_011528271.3:c.307G>C, XM_011528271.2:c.307G>C, XM_011528271.1:c.307G>C, NM_001321439.2:c.394G>C, NM_001321439.1:c.394G>C, XM_024451699.2:c.394G>C, XM_024451699.1:c.394G>C, XM_024451700.2:c.307G>C, XM_024451700.1:c.307G>C, XM_047439387.1:c.307G>C, XM_047439386.1:c.307G>C, NP_076934.1:p.Ala132Pro, XP_011526572.1:p.Ala132Pro, XP_011526573.1:p.Ala103Pro, NP_001308368.1:p.Ala132Pro, XP_024307467.1:p.Ala132Pro, XP_024307468.1:p.Ala103Pro, XP_047295343.1:p.Ala103Pro, XP_047295342.1:p.Ala103Pro

Select item 14842697042.

rs1484269704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10923926 (GRCh38)
19:11034602 (GRCh37)
Canonical SPDI:: NC_000019.10:10923925:C:T
Gene:: YIPF2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10923926C>T, NC_000019.9:g.11034602C>T, NM_024029.5:c.558G>A, NM_024029.4:c.558G>A, NM_024029.3:c.558G>A, XM_011528270.3:c.558G>A, XM_011528270.2:c.558G>A, XM_011528270.1:c.558G>A, XM_011528271.3:c.471G>A, XM_011528271.2:c.471G>A, XM_011528271.1:c.471G>A, NM_001321439.2:c.558G>A, NM_001321439.1:c.558G>A, XM_024451699.2:c.558G>A, XM_024451699.1:c.558G>A, XM_024451700.2:c.471G>A, XM_024451700.1:c.471G>A, NM_001321440.2:c.441G>A, NM_001321440.1:c.441G>A, XM_047439387.1:c.471G>A, XM_047439386.1:c.471G>A, NP_076934.1:p.Trp186Ter, XP_011526572.1:p.Trp186Ter, XP_011526573.1:p.Trp157Ter, NP_001308368.1:p.Trp186Ter, XP_024307467.1:p.Trp186Ter, XP_024307468.1:p.Trp157Ter, NP_001308369.1:p.Trp147Ter, XP_047295343.1:p.Trp157Ter, XP_047295342.1:p.Trp157Ter

Select item 14828929813.

rs1482892981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10923625 (GRCh38)
19:11034301 (GRCh37)
Canonical SPDI:: NC_000019.10:10923624:G:A
Gene:: YIPF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10923625G>A, NC_000019.9:g.11034301G>A, NM_024029.5:c.704C>T, NM_024029.4:c.704C>T, NM_024029.3:c.704C>T, XM_011528270.3:c.704C>T, XM_011528270.2:c.704C>T, XM_011528270.1:c.704C>T, XM_011528271.3:c.617C>T, XM_011528271.2:c.617C>T, XM_011528271.1:c.617C>T, NM_001321439.2:c.704C>T, NM_001321439.1:c.704C>T, XM_024451699.2:c.704C>T, XM_024451699.1:c.704C>T, XM_024451700.2:c.617C>T, XM_024451700.1:c.617C>T, NM_001321440.2:c.587C>T, NM_001321440.1:c.587C>T, XM_047439387.1:c.617C>T, XM_047439386.1:c.617C>T, NP_076934.1:p.Ala235Val, XP_011526572.1:p.Ala235Val, XP_011526573.1:p.Ala206Val, NP_001308368.1:p.Ala235Val, XP_024307467.1:p.Ala235Val, XP_024307468.1:p.Ala206Val, NP_001308369.1:p.Ala196Val, XP_047295343.1:p.Ala206Val, XP_047295342.1:p.Ala206Val

Select item 14801034334.

rs1480103433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10923952 (GRCh38)
19:11034628 (GRCh37)
Canonical SPDI:: NC_000019.10:10923951:G:A
Gene:: YIPF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.10923952G>A, NC_000019.9:g.11034628G>A, NM_024029.5:c.532C>T, NM_024029.4:c.532C>T, NM_024029.3:c.532C>T, XM_011528270.3:c.532C>T, XM_011528270.2:c.532C>T, XM_011528270.1:c.532C>T, XM_011528271.3:c.445C>T, XM_011528271.2:c.445C>T, XM_011528271.1:c.445C>T, NM_001321439.2:c.532C>T, NM_001321439.1:c.532C>T, XM_024451699.2:c.532C>T, XM_024451699.1:c.532C>T, XM_024451700.2:c.445C>T, XM_024451700.1:c.445C>T, NM_001321440.2:c.415C>T, NM_001321440.1:c.415C>T, XM_047439387.1:c.445C>T, XM_047439386.1:c.445C>T

Select item 14783181425.

rs1478318142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:10927834 (GRCh38)
19:11038510 (GRCh37)
Canonical SPDI:: NC_000019.10:10927833:C:G
Gene:: YIPF2 (Varview), TIMM29 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.10927834C>G, NC_000019.9:g.11038510C>G, NM_024029.5:c.157G>C, NM_024029.4:c.157G>C, NM_024029.3:c.157G>C, XM_011528270.3:c.157G>C, XM_011528270.2:c.157G>C, XM_011528270.1:c.157G>C, XM_011528271.3:c.157G>C, XM_011528271.2:c.157G>C, XM_011528271.1:c.157G>C, NM_001321439.2:c.157G>C, NM_001321439.1:c.157G>C, XM_024451699.2:c.157G>C, XM_024451699.1:c.157G>C, XM_024451700.2:c.157G>C, XM_024451700.1:c.157G>C, NM_001321440.2:c.157G>C, NM_001321440.1:c.157G>C, XM_047439387.1:c.157G>C, XM_047439386.1:c.157G>C, NP_076934.1:p.Glu53Gln, XP_011526572.1:p.Glu53Gln, XP_011526573.1:p.Glu53Gln, NP_001308368.1:p.Glu53Gln, XP_024307467.1:p.Glu53Gln, XP_024307468.1:p.Glu53Gln, NP_001308369.1:p.Glu53Gln, XP_047295343.1:p.Glu53Gln, XP_047295342.1:p.Glu53Gln

Select item 14769380116.

rs1476938011 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:10923506 (GRCh38)
19:11034183 (GRCh37)
Canonical SPDI:: NC_000019.10:10923506:GG:GGG
Gene:: CARM1 (Varview), YIPF2 (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10923508dup, NC_000019.9:g.11034184dup, NM_024029.5:c.822dup, NM_024029.4:c.822dup, NM_024029.3:c.822dup, XM_011528270.3:c.822dup, XM_011528270.2:c.822dup, XM_011528270.1:c.822dup, XM_011528271.3:c.735dup, XM_011528271.2:c.735dup, XM_011528271.1:c.735dup, NM_001321439.2:c.822dup, NM_001321439.1:c.822dup, XM_024451699.2:c.822dup, XM_024451699.1:c.822dup, XM_024451700.2:c.735dup, XM_024451700.1:c.735dup, NM_001321440.2:c.705dup, NM_001321440.1:c.705dup, XM_047439387.1:c.735dup, XM_047439386.1:c.735dup, NP_076934.1:p.Met275fs, XP_011526572.1:p.Met275fs, XP_011526573.1:p.Met246fs, NP_001308368.1:p.Met275fs, XP_024307467.1:p.Met275fs, XP_024307468.1:p.Met246fs, NP_001308369.1:p.Met236fs, XP_047295343.1:p.Met246fs, XP_047295342.1:p.Met246fs

Select item 14764304727.

rs1476430472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10923653 (GRCh38)
19:11034329 (GRCh37)
Canonical SPDI:: NC_000019.10:10923652:A:G
Gene:: YIPF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.10923653A>G, NC_000019.9:g.11034329A>G, NM_024029.5:c.676T>C, NM_024029.4:c.676T>C, NM_024029.3:c.676T>C, XM_011528270.3:c.676T>C, XM_011528270.2:c.676T>C, XM_011528270.1:c.676T>C, XM_011528271.3:c.589T>C, XM_011528271.2:c.589T>C, XM_011528271.1:c.589T>C, NM_001321439.2:c.676T>C, NM_001321439.1:c.676T>C, XM_024451699.2:c.676T>C, XM_024451699.1:c.676T>C, XM_024451700.2:c.589T>C, XM_024451700.1:c.589T>C, NM_001321440.2:c.559T>C, NM_001321440.1:c.559T>C, XM_047439387.1:c.589T>C, XM_047439386.1:c.589T>C, NP_076934.1:p.Trp226Arg, XP_011526572.1:p.Trp226Arg, XP_011526573.1:p.Trp197Arg, NP_001308368.1:p.Trp226Arg, XP_024307467.1:p.Trp226Arg, XP_024307468.1:p.Trp197Arg, NP_001308369.1:p.Trp187Arg, XP_047295343.1:p.Trp197Arg, XP_047295342.1:p.Trp197Arg

Select item 14737765958.

rs1473776595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:10923890 (GRCh38)
19:11034566 (GRCh37)
Canonical SPDI:: NC_000019.10:10923889:G:A,NC_000019.10:10923889:G:C
Gene:: YIPF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.10923890G>A, NC_000019.10:g.10923890G>C, NC_000019.9:g.11034566G>A, NC_000019.9:g.11034566G>C, NM_024029.5:c.594C>T, NM_024029.5:c.594C>G, NM_024029.4:c.594C>T, NM_024029.4:c.594C>G, NM_024029.3:c.594C>T, NM_024029.3:c.594C>G, XM_011528270.3:c.594C>T, XM_011528270.3:c.594C>G, XM_011528270.2:c.594C>T, XM_011528270.2:c.594C>G, XM_011528270.1:c.594C>T, XM_011528270.1:c.594C>G, XM_011528271.3:c.507C>T, XM_011528271.3:c.507C>G, XM_011528271.2:c.507C>T, XM_011528271.2:c.507C>G, XM_011528271.1:c.507C>T, XM_011528271.1:c.507C>G, NM_001321439.2:c.594C>T, NM_001321439.2:c.594C>G, NM_001321439.1:c.594C>T, NM_001321439.1:c.594C>G, XM_024451699.2:c.594C>T, XM_024451699.2:c.594C>G, XM_024451699.1:c.594C>T, XM_024451699.1:c.594C>G, XM_024451700.2:c.507C>T, XM_024451700.2:c.507C>G, XM_024451700.1:c.507C>T, XM_024451700.1:c.507C>G, NM_001321440.2:c.477C>T, NM_001321440.2:c.477C>G, NM_001321440.1:c.477C>T, NM_001321440.1:c.477C>G, XM_047439387.1:c.507C>T, XM_047439387.1:c.507C>G, XM_047439386.1:c.507C>T, XM_047439386.1:c.507C>G

Select item 14714207529.

rs1471420752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10923368 (GRCh38)
19:11034044 (GRCh37)
Canonical SPDI:: NC_000019.10:10923367:G:A
Gene:: CARM1 (Varview), YIPF2 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.10923368G>A, NC_000019.9:g.11034044G>A, NM_024029.5:c.874C>T, NM_024029.4:c.874C>T, NM_024029.3:c.874C>T, XM_011528270.3:c.874C>T, XM_011528270.2:c.874C>T, XM_011528270.1:c.874C>T, XM_011528271.3:c.787C>T, XM_011528271.2:c.787C>T, XM_011528271.1:c.787C>T, NM_001321439.2:c.874C>T, NM_001321439.1:c.874C>T, XM_024451699.2:c.874C>T, XM_024451699.1:c.874C>T, XM_024451700.2:c.787C>T, XM_024451700.1:c.787C>T, NM_001321440.2:c.757C>T, NM_001321440.1:c.757C>T, XM_047439387.1:c.787C>T, XM_047439386.1:c.787C>T, NP_076934.1:p.Pro292Ser, XP_011526572.1:p.Pro292Ser, XP_011526573.1:p.Pro263Ser, NP_001308368.1:p.Pro292Ser, XP_024307467.1:p.Pro292Ser, XP_024307468.1:p.Pro263Ser, NP_001308369.1:p.Pro253Ser, XP_047295343.1:p.Pro263Ser, XP_047295342.1:p.Pro263Ser

Select item 146813014610.

rs1468130146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:10927846 (GRCh38)
19:11038522 (GRCh37)
Canonical SPDI:: NC_000019.10:10927845:T:C
Gene:: YIPF2 (Varview), TIMM29 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.10927846T>C, NC_000019.9:g.11038522T>C, NM_024029.5:c.145A>G, NM_024029.4:c.145A>G, NM_024029.3:c.145A>G, XM_011528270.3:c.145A>G, XM_011528270.2:c.145A>G, XM_011528270.1:c.145A>G, XM_011528271.3:c.145A>G, XM_011528271.2:c.145A>G, XM_011528271.1:c.145A>G, NM_001321439.2:c.145A>G, NM_001321439.1:c.145A>G, XM_024451699.2:c.145A>G, XM_024451699.1:c.145A>G, XM_024451700.2:c.145A>G, XM_024451700.1:c.145A>G, NM_001321440.2:c.145A>G, NM_001321440.1:c.145A>G, XM_047439387.1:c.145A>G, XM_047439386.1:c.145A>G, NP_076934.1:p.Ser49Gly, XP_011526572.1:p.Ser49Gly, XP_011526573.1:p.Ser49Gly, NP_001308368.1:p.Ser49Gly, XP_024307467.1:p.Ser49Gly, XP_024307468.1:p.Ser49Gly, NP_001308369.1:p.Ser49Gly, XP_047295343.1:p.Ser49Gly, XP_047295342.1:p.Ser49Gly

Select item 146412202511.

rs1464122025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:10923305 (GRCh38)
19:11033981 (GRCh37)
Canonical SPDI:: NC_000019.10:10923304:G:C
Gene:: CARM1 (Varview), YIPF2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10923305G>C, NC_000019.9:g.11033981G>C, NM_024029.5:c.937C>G, NM_024029.4:c.937C>G, NM_024029.3:c.937C>G, XM_011528270.3:c.937C>G, XM_011528270.2:c.937C>G, XM_011528270.1:c.937C>G, XM_011528271.3:c.850C>G, XM_011528271.2:c.850C>G, XM_011528271.1:c.850C>G, NM_001321439.2:c.937C>G, NM_001321439.1:c.937C>G, XM_024451699.2:c.937C>G, XM_024451699.1:c.937C>G, XM_024451700.2:c.850C>G, XM_024451700.1:c.850C>G, NM_001321440.2:c.820C>G, NM_001321440.1:c.820C>G, XM_047439387.1:c.850C>G, XM_047439386.1:c.850C>G, NP_076934.1:p.Leu313Val, XP_011526572.1:p.Leu313Val, XP_011526573.1:p.Leu284Val, NP_001308368.1:p.Leu313Val, XP_024307467.1:p.Leu313Val, XP_024307468.1:p.Leu284Val, NP_001308369.1:p.Leu274Val, XP_047295343.1:p.Leu284Val, XP_047295342.1:p.Leu284Val

Select item 146054253612.

rs1460542536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:10924081 (GRCh38)
19:11034757 (GRCh37)
Canonical SPDI:: NC_000019.10:10924080:T:G
Gene:: YIPF2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10924081T>G, NC_000019.9:g.11034757T>G, NM_024029.5:c.479A>C, NM_024029.4:c.479A>C, NM_024029.3:c.479A>C, XM_011528270.3:c.479A>C, XM_011528270.2:c.479A>C, XM_011528270.1:c.479A>C, XM_011528271.3:c.392A>C, XM_011528271.2:c.392A>C, XM_011528271.1:c.392A>C, NM_001321439.2:c.479A>C, NM_001321439.1:c.479A>C, XM_024451699.2:c.479A>C, XM_024451699.1:c.479A>C, XM_024451700.2:c.392A>C, XM_024451700.1:c.392A>C, XM_047439387.1:c.392A>C, XM_047439386.1:c.392A>C, NP_076934.1:p.His160Pro, XP_011526572.1:p.His160Pro, XP_011526573.1:p.His131Pro, NP_001308368.1:p.His160Pro, XP_024307467.1:p.His160Pro, XP_024307468.1:p.His131Pro, XP_047295343.1:p.His131Pro, XP_047295342.1:p.His131Pro

Select item 145896773413.

rs1458967734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:10923857 (GRCh38)
19:11034533 (GRCh37)
Canonical SPDI:: NC_000019.10:10923856:G:T
Gene:: YIPF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.10923857G>T, NC_000019.9:g.11034533G>T, NM_024029.5:c.627C>A, NM_024029.4:c.627C>A, NM_024029.3:c.627C>A, XM_011528270.3:c.627C>A, XM_011528270.2:c.627C>A, XM_011528270.1:c.627C>A, XM_011528271.3:c.540C>A, XM_011528271.2:c.540C>A, XM_011528271.1:c.540C>A, NM_001321439.2:c.627C>A, NM_001321439.1:c.627C>A, XM_024451699.2:c.627C>A, XM_024451699.1:c.627C>A, XM_024451700.2:c.540C>A, XM_024451700.1:c.540C>A, NM_001321440.2:c.510C>A, NM_001321440.1:c.510C>A, XM_047439387.1:c.540C>A, XM_047439386.1:c.540C>A

Select item 145525618914.

rs1455256189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:10923541 (GRCh38)
19:11034217 (GRCh37)
Canonical SPDI:: NC_000019.10:10923540:A:T
Gene:: CARM1 (Varview), YIPF2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10923541A>T, NC_000019.9:g.11034217A>T, NM_024029.5:c.788T>A, NM_024029.4:c.788T>A, NM_024029.3:c.788T>A, XM_011528270.3:c.788T>A, XM_011528270.2:c.788T>A, XM_011528270.1:c.788T>A, XM_011528271.3:c.701T>A, XM_011528271.2:c.701T>A, XM_011528271.1:c.701T>A, NM_001321439.2:c.788T>A, NM_001321439.1:c.788T>A, XM_024451699.2:c.788T>A, XM_024451699.1:c.788T>A, XM_024451700.2:c.701T>A, XM_024451700.1:c.701T>A, NM_001321440.2:c.671T>A, NM_001321440.1:c.671T>A, XM_047439387.1:c.701T>A, XM_047439386.1:c.701T>A, NP_076934.1:p.Leu263Gln, XP_011526572.1:p.Leu263Gln, XP_011526573.1:p.Leu234Gln, NP_001308368.1:p.Leu263Gln, XP_024307467.1:p.Leu263Gln, XP_024307468.1:p.Leu234Gln, NP_001308369.1:p.Leu224Gln, XP_047295343.1:p.Leu234Gln, XP_047295342.1:p.Leu234Gln

Select item 145520869715.

rs1455208697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10924151 (GRCh38)
19:11034827 (GRCh37)
Canonical SPDI:: NC_000019.10:10924150:C:T
Gene:: YIPF2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000048/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.10924151C>T, NC_000019.9:g.11034827C>T, NM_024029.5:c.409G>A, NM_024029.4:c.409G>A, NM_024029.3:c.409G>A, XM_011528270.3:c.409G>A, XM_011528270.2:c.409G>A, XM_011528270.1:c.409G>A, XM_011528271.3:c.322G>A, XM_011528271.2:c.322G>A, XM_011528271.1:c.322G>A, NM_001321439.2:c.409G>A, NM_001321439.1:c.409G>A, XM_024451699.2:c.409G>A, XM_024451699.1:c.409G>A, XM_024451700.2:c.322G>A, XM_024451700.1:c.322G>A, XM_047439387.1:c.322G>A, XM_047439386.1:c.322G>A, NP_076934.1:p.Val137Ile, XP_011526572.1:p.Val137Ile, XP_011526573.1:p.Val108Ile, NP_001308368.1:p.Val137Ile, XP_024307467.1:p.Val137Ile, XP_024307468.1:p.Val108Ile, XP_047295343.1:p.Val108Ile, XP_047295342.1:p.Val108Ile

Select item 145232349516.

rs1452323495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:10927699 (GRCh38)
19:11038375 (GRCh37)
Canonical SPDI:: NC_000019.10:10927698:C:G
Gene:: YIPF2 (Varview), TIMM29 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_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_000019.10:g.10927699C>G, NC_000019.9:g.11038375C>G, NM_024029.5:c.210G>C, NM_024029.4:c.210G>C, NM_024029.3:c.210G>C, XM_011528270.3:c.210G>C, XM_011528270.2:c.210G>C, XM_011528270.1:c.210G>C, NM_001321439.2:c.210G>C, NM_001321439.1:c.210G>C, XM_024451699.2:c.210G>C, XM_024451699.1:c.210G>C, NM_001321440.2:c.210G>C, NM_001321440.1:c.210G>C, NP_076934.1:p.Gln70His, XP_011526572.1:p.Gln70His, NP_001308368.1:p.Gln70His, XP_024307467.1:p.Gln70His, NP_001308369.1:p.Gln70His

Select item 145152006517.

rs1451520065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10923362 (GRCh38)
19:11034038 (GRCh37)
Canonical SPDI:: NC_000019.10:10923361:G:A
Gene:: CARM1 (Varview), YIPF2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10923362G>A, NC_000019.9:g.11034038G>A, NM_024029.5:c.880C>T, NM_024029.4:c.880C>T, NM_024029.3:c.880C>T, XM_011528270.3:c.880C>T, XM_011528270.2:c.880C>T, XM_011528270.1:c.880C>T, XM_011528271.3:c.793C>T, XM_011528271.2:c.793C>T, XM_011528271.1:c.793C>T, NM_001321439.2:c.880C>T, NM_001321439.1:c.880C>T, XM_024451699.2:c.880C>T, XM_024451699.1:c.880C>T, XM_024451700.2:c.793C>T, XM_024451700.1:c.793C>T, NM_001321440.2:c.763C>T, NM_001321440.1:c.763C>T, XM_047439387.1:c.793C>T, XM_047439386.1:c.793C>T, NP_076934.1:p.Pro294Ser, XP_011526572.1:p.Pro294Ser, XP_011526573.1:p.Pro265Ser, NP_001308368.1:p.Pro294Ser, XP_024307467.1:p.Pro294Ser, XP_024307468.1:p.Pro265Ser, NP_001308369.1:p.Pro255Ser, XP_047295343.1:p.Pro265Ser, XP_047295342.1:p.Pro265Ser

Select item 144954103618.

rs1449541036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:10925724 (GRCh38)
19:11036400 (GRCh37)
Canonical SPDI:: NC_000019.10:10925722:AAA:A
Gene:: YIPF2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10925724_10925725del, NC_000019.9:g.11036400_11036401del, NM_024029.5:c.329_330del, NM_024029.4:c.329_330del, NM_024029.3:c.329_330del, XM_011528270.3:c.329_330del, XM_011528270.2:c.329_330del, XM_011528270.1:c.329_330del, XM_011528271.3:c.242_243del, XM_011528271.2:c.242_243del, XM_011528271.1:c.242_243del, NM_001321439.2:c.329_330del, NM_001321439.1:c.329_330del, XM_024451699.2:c.329_330del, XM_024451699.1:c.329_330del, XM_024451700.2:c.242_243del, XM_024451700.1:c.242_243del, NM_001321440.2:c.329_330del, NM_001321440.1:c.329_330del, XM_047439387.1:c.242_243del, XM_047439386.1:c.242_243del, NP_076934.1:p.Phe110fs, XP_011526572.1:p.Phe110fs, XP_011526573.1:p.Phe81fs, NP_001308368.1:p.Phe110fs, XP_024307467.1:p.Phe110fs, XP_024307468.1:p.Phe81fs, NP_001308369.1:p.Phe110fs, XP_047295343.1:p.Phe81fs, XP_047295342.1:p.Phe81fs

Select item 144729350819.

rs1447293508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10927654 (GRCh38)
19:11038330 (GRCh37)
Canonical SPDI:: NC_000019.10:10927653:G:A
Gene:: YIPF2 (Varview), TIMM29 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10927654G>A, NC_000019.9:g.11038330G>A, NM_024029.5:c.255C>T, NM_024029.4:c.255C>T, NM_024029.3:c.255C>T, XM_011528270.3:c.255C>T, XM_011528270.2:c.255C>T, XM_011528270.1:c.255C>T, NM_001321439.2:c.255C>T, NM_001321439.1:c.255C>T, XM_024451699.2:c.255C>T, XM_024451699.1:c.255C>T, NM_001321440.2:c.255C>T, NM_001321440.1:c.255C>T

Select item 144672663720.

rs1446726637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10924105 (GRCh38)
19:11034781 (GRCh37)
Canonical SPDI:: NC_000019.10:10924104:G:A
Gene:: YIPF2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.10924105G>A, NC_000019.9:g.11034781G>A, NM_024029.5:c.455C>T, NM_024029.4:c.455C>T, NM_024029.3:c.455C>T, XM_011528270.3:c.455C>T, XM_011528270.2:c.455C>T, XM_011528270.1:c.455C>T, XM_011528271.3:c.368C>T, XM_011528271.2:c.368C>T, XM_011528271.1:c.368C>T, NM_001321439.2:c.455C>T, NM_001321439.1:c.455C>T, XM_024451699.2:c.455C>T, XM_024451699.1:c.455C>T, XM_024451700.2:c.368C>T, XM_024451700.1:c.368C>T, XM_047439387.1:c.368C>T, XM_047439386.1:c.368C>T, NP_076934.1:p.Ser152Phe, XP_011526572.1:p.Ser152Phe, XP_011526573.1:p.Ser123Phe, NP_001308368.1:p.Ser152Phe, XP_024307467.1:p.Ser152Phe, XP_024307468.1:p.Ser123Phe, XP_047295343.1:p.Ser123Phe, XP_047295342.1:p.Ser123Phe

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