Canonical Allele Identifier: CA338232418

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312808G>T (hg19) ; chr1:g.16986313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986313G>T , CM000663.2:g.16986313G>T	GRCh38
NC_000001.10:g.17312808G>T , CM000663.1:g.17312808G>T	GRCh37
NC_000001.9:g.17185395G>T	NCBI36
NG_009054.1:g.30616C>A
NG_029688.1:g.274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3451C>A MANE Select	ENSP00000327214.8:p.Pro1151Thr
ENST00000326735.12:c.3451C>A	ENSP00000327214.8:p.Pro1151Thr
ENST00000341676.9:c.3149C>A	ENSP00000341115.5:p.Ala1050Asp
ENST00000452699.5:c.3436C>A	ENSP00000413307.1:p.Pro1146Thr
ENST00000466561.1:n.1497C>A
ENST00000502418.1:c.869C>A	ENSP00000423065.1:p.Ala290Asp
NM_001141973.2:c.3436C>A	NP_001135445.1:p.Pro1146Thr
NM_001141974.2:c.3149C>A	NP_001135446.1:p.Ala1050Asp
NM_022089.3:c.3451C>A	NP_071372.1:p.Pro1151Thr
XM_005245809.1:c.3281C>A	XP_005245866.1:p.Ala1094Asp
XM_005245810.1:c.3278C>A	XP_005245867.1:p.Ala1093Asp
XM_005245811.1:c.3266C>A	XP_005245868.1:p.Ala1089Asp
XM_005245812.1:c.3254C>A	XP_005245869.1:p.Ala1085Asp
XM_005245813.1:c.3221C>A	XP_005245870.1:p.Ala1074Asp
XM_005245815.1:c.3164C>A	XP_005245872.1:p.Ala1055Asp
XM_006710512.1:c.3263C>A	XP_006710575.1:p.Ala1088Asp
XM_006710513.1:c.3239C>A	XP_006710576.1:p.Ala1080Asp
XM_011541128.1:c.3266C>A	XP_011539430.1:p.Ala1089Asp
XM_011541129.1:c.3074C>A	XP_011539431.1:p.Ala1025Asp
XM_017000844.1:c.3436C>A	XP_016856333.1:p.Pro1146Thr
XM_017000845.1:c.3433C>A	XP_016856334.1:p.Pro1145Thr
XM_017000846.1:c.3409C>A	XP_016856335.1:p.Pro1137Thr
XM_017000847.1:c.3406C>A	XP_016856336.1:p.Pro1136Thr
XM_017000848.1:c.3334C>A	XP_016856337.1:p.Pro1112Thr
XM_017000849.1:c.3319C>A	XP_016856338.1:p.Pro1107Thr
XM_017000850.1:c.3244C>A	XP_016856339.1:p.Pro1082Thr
NM_022089.4:c.3451C>A MANE Select	NP_071372.1:p.Pro1151Thr
NM_001141973.3:c.3436C>A	NP_001135445.1:p.Pro1146Thr
NM_001141974.3:c.3149C>A	NP_001135446.1:p.Ala1050Asp