Canonical Allele Identifier: CA338232426

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312812G>A (hg19) ; chr1:g.16986317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986317G>A , CM000663.2:g.16986317G>A	GRCh38
NC_000001.10:g.17312812G>A , CM000663.1:g.17312812G>A	GRCh37
NC_000001.9:g.17185399G>A	NCBI36
NG_009054.1:g.30612C>T
NG_029688.1:g.270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3447C>T MANE Select	ENSP00000327214.8:p.Leu1149=
ENST00000326735.12:c.3447C>T	ENSP00000327214.8:p.Leu1149=
ENST00000341676.9:c.3145C>T	ENSP00000341115.5:p.Pro1049Ser
ENST00000452699.5:c.3432C>T	ENSP00000413307.1:p.Leu1144=
ENST00000466561.1:n.1493C>T
ENST00000502418.1:c.865C>T	ENSP00000423065.1:p.Pro289Ser
NM_001141973.2:c.3432C>T	NP_001135445.1:p.Leu1144=
NM_001141974.2:c.3145C>T	NP_001135446.1:p.Pro1049Ser
NM_022089.3:c.3447C>T	NP_071372.1:p.Leu1149=
XM_005245809.1:c.3277C>T	XP_005245866.1:p.Pro1093Ser
XM_005245810.1:c.3274C>T	XP_005245867.1:p.Pro1092Ser
XM_005245811.1:c.3262C>T	XP_005245868.1:p.Pro1088Ser
XM_005245812.1:c.3250C>T	XP_005245869.1:p.Pro1084Ser
XM_005245813.1:c.3217C>T	XP_005245870.1:p.Pro1073Ser
XM_005245815.1:c.3160C>T	XP_005245872.1:p.Pro1054Ser
XM_006710512.1:c.3259C>T	XP_006710575.1:p.Pro1087Ser
XM_006710513.1:c.3235C>T	XP_006710576.1:p.Pro1079Ser
XM_011541128.1:c.3262C>T	XP_011539430.1:p.Pro1088Ser
XM_011541129.1:c.3070C>T	XP_011539431.1:p.Pro1024Ser
XM_017000844.1:c.3432C>T	XP_016856333.1:p.Leu1144=
XM_017000845.1:c.3429C>T	XP_016856334.1:p.Leu1143=
XM_017000846.1:c.3405C>T	XP_016856335.1:p.Leu1135=
XM_017000847.1:c.3402C>T	XP_016856336.1:p.Leu1134=
XM_017000848.1:c.3330C>T	XP_016856337.1:p.Leu1110=
XM_017000849.1:c.3315C>T	XP_016856338.1:p.Leu1105=
XM_017000850.1:c.3240C>T	XP_016856339.1:p.Leu1080=
NM_022089.4:c.3447C>T MANE Select	NP_071372.1:p.Leu1149=
NM_001141973.3:c.3432C>T	NP_001135445.1:p.Leu1144=
NM_001141974.3:c.3145C>T	NP_001135446.1:p.Pro1049Ser