Canonical Allele Identifier: CA338232189

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986268-G-A
• MyVariant Identifiers: chr1:g.17312763G>A (hg19) ; chr1:g.16986268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986268G>A , CM000663.2:g.16986268G>A	GRCh38
NC_000001.10:g.17312763G>A , CM000663.1:g.17312763G>A	GRCh37
NC_000001.9:g.17185350G>A	NCBI36
NG_009054.1:g.30661C>T
NG_029688.1:g.319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3496C>T MANE Select	ENSP00000327214.8:p.Leu1166=
ENST00000326735.12:c.3496C>T	ENSP00000327214.8:p.Leu1166=
ENST00000341676.9:c.3194C>T	ENSP00000341115.5:p.Ala1065Val
ENST00000452699.5:c.3481C>T	ENSP00000413307.1:p.Leu1161=
ENST00000466561.1:n.1542C>T
ENST00000502418.1:c.914C>T	ENSP00000423065.1:p.Ala305Val
NM_001141973.2:c.3481C>T	NP_001135445.1:p.Leu1161=
NM_001141974.2:c.3194C>T	NP_001135446.1:p.Ala1065Val
NM_022089.3:c.3496C>T	NP_071372.1:p.Leu1166=
XM_005245809.1:c.3326C>T	XP_005245866.1:p.Ala1109Val
XM_005245810.1:c.3323C>T	XP_005245867.1:p.Ala1108Val
XM_005245811.1:c.3311C>T	XP_005245868.1:p.Ala1104Val
XM_005245812.1:c.3299C>T	XP_005245869.1:p.Ala1100Val
XM_005245813.1:c.3266C>T	XP_005245870.1:p.Ala1089Val
XM_005245815.1:c.3209C>T	XP_005245872.1:p.Ala1070Val
XM_006710512.1:c.3308C>T	XP_006710575.1:p.Ala1103Val
XM_006710513.1:c.3284C>T	XP_006710576.1:p.Ala1095Val
XM_011541128.1:c.3311C>T	XP_011539430.1:p.Ala1104Val
XM_011541129.1:c.3119C>T	XP_011539431.1:p.Ala1040Val
XM_017000844.1:c.3481C>T	XP_016856333.1:p.Leu1161=
XM_017000845.1:c.3478C>T	XP_016856334.1:p.Leu1160=
XM_017000846.1:c.3454C>T	XP_016856335.1:p.Leu1152=
XM_017000847.1:c.3451C>T	XP_016856336.1:p.Leu1151=
XM_017000848.1:c.3379C>T	XP_016856337.1:p.Leu1127=
XM_017000849.1:c.3364C>T	XP_016856338.1:p.Leu1122=
XM_017000850.1:c.3289C>T	XP_016856339.1:p.Leu1097=
NM_022089.4:c.3496C>T MANE Select	NP_071372.1:p.Leu1166=
NM_001141973.3:c.3481C>T	NP_001135445.1:p.Leu1161=
NM_001141974.3:c.3194C>T	NP_001135446.1:p.Ala1065Val