Canonical Allele Identifier: CA338232606

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1492619
• ClinVar RCV Id: RCV001981097
• dbSNP Id: rs779310083
• gnomAD v4: 1-16986356-G-T
• MyVariant Identifiers: chr1:g.17312851G>T (hg19) ; chr1:g.16986356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986356G>T , CM000663.2:g.16986356G>T	GRCh38
NC_000001.10:g.17312851G>T , CM000663.1:g.17312851G>T	GRCh37
NC_000001.9:g.17185438G>T	NCBI36
NG_009054.1:g.30573C>A
NG_029688.1:g.231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3408C>A MANE Select	ENSP00000327214.8:p.Ser1136Arg
ENST00000326735.12:c.3408C>A	ENSP00000327214.8:p.Ser1136Arg
ENST00000341676.9:c.3106C>A	ENSP00000341115.5:p.Arg1036Ser
ENST00000452699.5:c.3393C>A	ENSP00000413307.1:p.Ser1131Arg
ENST00000466561.1:n.1454C>A
ENST00000502418.1:c.826C>A	ENSP00000423065.1:p.Arg276Ser
NM_001141973.2:c.3393C>A	NP_001135445.1:p.Ser1131Arg
NM_001141974.2:c.3106C>A	NP_001135446.1:p.Arg1036Ser
NM_022089.3:c.3408C>A	NP_071372.1:p.Ser1136Arg
XM_005245809.1:c.3238C>A	XP_005245866.1:p.Arg1080Ser
XM_005245810.1:c.3235C>A	XP_005245867.1:p.Arg1079Ser
XM_005245811.1:c.3223C>A	XP_005245868.1:p.Arg1075Ser
XM_005245812.1:c.3211C>A	XP_005245869.1:p.Arg1071Ser
XM_005245813.1:c.3178C>A	XP_005245870.1:p.Arg1060Ser
XM_005245815.1:c.3121C>A	XP_005245872.1:p.Arg1041Ser
XM_006710512.1:c.3220C>A	XP_006710575.1:p.Arg1074Ser
XM_006710513.1:c.3196C>A	XP_006710576.1:p.Arg1066Ser
XM_011541128.1:c.3223C>A	XP_011539430.1:p.Arg1075Ser
XM_011541129.1:c.3031C>A	XP_011539431.1:p.Arg1011Ser
XM_017000844.1:c.3393C>A	XP_016856333.1:p.Ser1131Arg
XM_017000845.1:c.3390C>A	XP_016856334.1:p.Ser1130Arg
XM_017000846.1:c.3366C>A	XP_016856335.1:p.Ser1122Arg
XM_017000847.1:c.3363C>A	XP_016856336.1:p.Ser1121Arg
XM_017000848.1:c.3291C>A	XP_016856337.1:p.Ser1097Arg
XM_017000849.1:c.3276C>A	XP_016856338.1:p.Ser1092Arg
XM_017000850.1:c.3201C>A	XP_016856339.1:p.Ser1067Arg
NM_022089.4:c.3408C>A MANE Select	NP_071372.1:p.Ser1136Arg
NM_001141973.3:c.3393C>A	NP_001135445.1:p.Ser1131Arg
NM_001141974.3:c.3106C>A	NP_001135446.1:p.Arg1036Ser