Canonical Allele Identifier: CA338232416

Gene: ATP13A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3451C>T MANE Select	ENSP00000327214.8:p.Pro1151Ser
ENST00000326735.12:c.3451C>T	ENSP00000327214.8:p.Pro1151Ser
ENST00000341676.9:c.3149C>T	ENSP00000341115.5:p.Ala1050Val
ENST00000452699.5:c.3436C>T	ENSP00000413307.1:p.Pro1146Ser
ENST00000466561.1:n.1497C>T
ENST00000502418.1:c.869C>T	ENSP00000423065.1:p.Ala290Val
NM_001141973.2:c.3436C>T	NP_001135445.1:p.Pro1146Ser
NM_001141974.2:c.3149C>T	NP_001135446.1:p.Ala1050Val
NM_022089.3:c.3451C>T	NP_071372.1:p.Pro1151Ser
XM_005245809.1:c.3281C>T	XP_005245866.1:p.Ala1094Val
XM_005245810.1:c.3278C>T	XP_005245867.1:p.Ala1093Val
XM_005245811.1:c.3266C>T	XP_005245868.1:p.Ala1089Val
XM_005245812.1:c.3254C>T	XP_005245869.1:p.Ala1085Val
XM_005245813.1:c.3221C>T	XP_005245870.1:p.Ala1074Val
XM_005245815.1:c.3164C>T	XP_005245872.1:p.Ala1055Val
XM_006710512.1:c.3263C>T	XP_006710575.1:p.Ala1088Val
XM_006710513.1:c.3239C>T	XP_006710576.1:p.Ala1080Val
XM_011541128.1:c.3266C>T	XP_011539430.1:p.Ala1089Val
XM_011541129.1:c.3074C>T	XP_011539431.1:p.Ala1025Val
XM_017000844.1:c.3436C>T	XP_016856333.1:p.Pro1146Ser
XM_017000845.1:c.3433C>T	XP_016856334.1:p.Pro1145Ser
XM_017000846.1:c.3409C>T	XP_016856335.1:p.Pro1137Ser
XM_017000847.1:c.3406C>T	XP_016856336.1:p.Pro1136Ser
XM_017000848.1:c.3334C>T	XP_016856337.1:p.Pro1112Ser
XM_017000849.1:c.3319C>T	XP_016856338.1:p.Pro1107Ser
XM_017000850.1:c.3244C>T	XP_016856339.1:p.Pro1082Ser
NM_022089.4:c.3451C>T MANE Select	NP_071372.1:p.Pro1151Ser
NM_001141973.3:c.3436C>T	NP_001135445.1:p.Pro1146Ser
NM_001141974.3:c.3149C>T	NP_001135446.1:p.Ala1050Val