Canonical Allele Identifier: CA338232301

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 533805
• ClinVar RCV Id: RCV000641066
• dbSNP Id: rs1553164387
• MyVariant Identifiers: chr1:g.17312783A>G (hg19) ; chr1:g.16986288A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986288A>G , CM000663.2:g.16986288A>G	GRCh38
NC_000001.10:g.17312783A>G , CM000663.1:g.17312783A>G	GRCh37
NC_000001.9:g.17185370A>G	NCBI36
NG_009054.1:g.30641T>C
NG_029688.1:g.299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3476T>C MANE Select	ENSP00000327214.8:p.Phe1159Ser
ENST00000326735.12:c.3476T>C	ENSP00000327214.8:p.Phe1159Ser
ENST00000341676.9:c.3174T>C	ENSP00000341115.5:p.Leu1058=
ENST00000452699.5:c.3461T>C	ENSP00000413307.1:p.Phe1154Ser
ENST00000466561.1:n.1522T>C
ENST00000502418.1:c.894T>C	ENSP00000423065.1:p.Leu298=
NM_001141973.2:c.3461T>C	NP_001135445.1:p.Phe1154Ser
NM_001141974.2:c.3174T>C	NP_001135446.1:p.Leu1058=
NM_022089.3:c.3476T>C	NP_071372.1:p.Phe1159Ser
XM_005245809.1:c.3306T>C	XP_005245866.1:p.Leu1102=
XM_005245810.1:c.3303T>C	XP_005245867.1:p.Leu1101=
XM_005245811.1:c.3291T>C	XP_005245868.1:p.Leu1097=
XM_005245812.1:c.3279T>C	XP_005245869.1:p.Leu1093=
XM_005245813.1:c.3246T>C	XP_005245870.1:p.Leu1082=
XM_005245815.1:c.3189T>C	XP_005245872.1:p.Leu1063=
XM_006710512.1:c.3288T>C	XP_006710575.1:p.Leu1096=
XM_006710513.1:c.3264T>C	XP_006710576.1:p.Leu1088=
XM_011541128.1:c.3291T>C	XP_011539430.1:p.Leu1097=
XM_011541129.1:c.3099T>C	XP_011539431.1:p.Leu1033=
XM_017000844.1:c.3461T>C	XP_016856333.1:p.Phe1154Ser
XM_017000845.1:c.3458T>C	XP_016856334.1:p.Phe1153Ser
XM_017000846.1:c.3434T>C	XP_016856335.1:p.Phe1145Ser
XM_017000847.1:c.3431T>C	XP_016856336.1:p.Phe1144Ser
XM_017000848.1:c.3359T>C	XP_016856337.1:p.Phe1120Ser
XM_017000849.1:c.3344T>C	XP_016856338.1:p.Phe1115Ser
XM_017000850.1:c.3269T>C	XP_016856339.1:p.Phe1090Ser
NM_022089.4:c.3476T>C MANE Select	NP_071372.1:p.Phe1159Ser
NM_001141973.3:c.3461T>C	NP_001135445.1:p.Phe1154Ser
NM_001141974.3:c.3174T>C	NP_001135446.1:p.Leu1058=