Canonical Allele Identifier: CA338231996

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312736G>A (hg19) ; chr1:g.16986241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986241G>A , CM000663.2:g.16986241G>A	GRCh38
NC_000001.10:g.17312736G>A , CM000663.1:g.17312736G>A	GRCh37
NC_000001.9:g.17185323G>A	NCBI36
NG_009054.1:g.30688C>T
NG_029688.1:g.346C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3523C>T MANE Select	ENSP00000327214.8:p.Pro1175Ser
ENST00000326735.12:c.3523C>T	ENSP00000327214.8:p.Pro1175Ser
ENST00000341676.9:c.3221C>T	ENSP00000341115.5:p.Ala1074Val
ENST00000452699.5:c.3508C>T	ENSP00000413307.1:p.Pro1170Ser
ENST00000466561.1:n.1569C>T
ENST00000502418.1:c.941C>T	ENSP00000423065.1:p.Ala314Val
NM_001141973.2:c.3508C>T	NP_001135445.1:p.Pro1170Ser
NM_001141974.2:c.3221C>T	NP_001135446.1:p.Ala1074Val
NM_022089.3:c.3523C>T	NP_071372.1:p.Pro1175Ser
XM_005245809.1:c.3353C>T	XP_005245866.1:p.Ala1118Val
XM_005245810.1:c.3350C>T	XP_005245867.1:p.Ala1117Val
XM_005245811.1:c.3338C>T	XP_005245868.1:p.Ala1113Val
XM_005245812.1:c.3326C>T	XP_005245869.1:p.Ala1109Val
XM_005245813.1:c.3293C>T	XP_005245870.1:p.Ala1098Val
XM_005245815.1:c.3236C>T	XP_005245872.1:p.Ala1079Val
XM_006710512.1:c.3335C>T	XP_006710575.1:p.Ala1112Val
XM_006710513.1:c.3311C>T	XP_006710576.1:p.Ala1104Val
XM_011541128.1:c.3338C>T	XP_011539430.1:p.Ala1113Val
XM_011541129.1:c.3146C>T	XP_011539431.1:p.Ala1049Val
XM_017000844.1:c.3508C>T	XP_016856333.1:p.Pro1170Ser
XM_017000845.1:c.3505C>T	XP_016856334.1:p.Pro1169Ser
XM_017000846.1:c.3481C>T	XP_016856335.1:p.Pro1161Ser
XM_017000847.1:c.3478C>T	XP_016856336.1:p.Pro1160Ser
XM_017000848.1:c.3406C>T	XP_016856337.1:p.Pro1136Ser
XM_017000849.1:c.3391C>T	XP_016856338.1:p.Pro1131Ser
XM_017000850.1:c.3316C>T	XP_016856339.1:p.Pro1106Ser
NM_022089.4:c.3523C>T MANE Select	NP_071372.1:p.Pro1175Ser
NM_001141973.3:c.3508C>T	NP_001135445.1:p.Pro1170Ser
NM_001141974.3:c.3221C>T	NP_001135446.1:p.Ala1074Val