Canonical Allele Identifier: CA338232529

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312835G>T (hg19) ; chr1:g.16986340G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986340G>T , CM000663.2:g.16986340G>T	GRCh38
NC_000001.10:g.17312835G>T , CM000663.1:g.17312835G>T	GRCh37
NC_000001.9:g.17185422G>T	NCBI36
NG_009054.1:g.30589C>A
NG_029688.1:g.247C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3424C>A MANE Select	ENSP00000327214.8:p.Leu1142Ile
ENST00000326735.12:c.3424C>A	ENSP00000327214.8:p.Leu1142Ile
ENST00000341676.9:c.3122C>A	ENSP00000341115.5:p.Pro1041His
ENST00000452699.5:c.3409C>A	ENSP00000413307.1:p.Leu1137Ile
ENST00000466561.1:n.1470C>A
ENST00000502418.1:c.842C>A	ENSP00000423065.1:p.Pro281His
NM_001141973.2:c.3409C>A	NP_001135445.1:p.Leu1137Ile
NM_001141974.2:c.3122C>A	NP_001135446.1:p.Pro1041His
NM_022089.3:c.3424C>A	NP_071372.1:p.Leu1142Ile
XM_005245809.1:c.3254C>A	XP_005245866.1:p.Pro1085His
XM_005245810.1:c.3251C>A	XP_005245867.1:p.Pro1084His
XM_005245811.1:c.3239C>A	XP_005245868.1:p.Pro1080His
XM_005245812.1:c.3227C>A	XP_005245869.1:p.Pro1076His
XM_005245813.1:c.3194C>A	XP_005245870.1:p.Pro1065His
XM_005245815.1:c.3137C>A	XP_005245872.1:p.Pro1046His
XM_006710512.1:c.3236C>A	XP_006710575.1:p.Pro1079His
XM_006710513.1:c.3212C>A	XP_006710576.1:p.Pro1071His
XM_011541128.1:c.3239C>A	XP_011539430.1:p.Pro1080His
XM_011541129.1:c.3047C>A	XP_011539431.1:p.Pro1016His
XM_017000844.1:c.3409C>A	XP_016856333.1:p.Leu1137Ile
XM_017000845.1:c.3406C>A	XP_016856334.1:p.Leu1136Ile
XM_017000846.1:c.3382C>A	XP_016856335.1:p.Leu1128Ile
XM_017000847.1:c.3379C>A	XP_016856336.1:p.Leu1127Ile
XM_017000848.1:c.3307C>A	XP_016856337.1:p.Leu1103Ile
XM_017000849.1:c.3292C>A	XP_016856338.1:p.Leu1098Ile
XM_017000850.1:c.3217C>A	XP_016856339.1:p.Leu1073Ile
NM_022089.4:c.3424C>A MANE Select	NP_071372.1:p.Leu1142Ile
NM_001141973.3:c.3409C>A	NP_001135445.1:p.Leu1137Ile
NM_001141974.3:c.3122C>A	NP_001135446.1:p.Pro1041His