Canonical Allele Identifier: CA338232595

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312849A>G (hg19) ; chr1:g.16986354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986354A>G , CM000663.2:g.16986354A>G	GRCh38
NC_000001.10:g.17312849A>G , CM000663.1:g.17312849A>G	GRCh37
NC_000001.9:g.17185436A>G	NCBI36
NG_009054.1:g.30575T>C
NG_029688.1:g.233T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3410T>C MANE Select	ENSP00000327214.8:p.Val1137Ala
ENST00000326735.12:c.3410T>C	ENSP00000327214.8:p.Val1137Ala
ENST00000341676.9:c.3108T>C	ENSP00000341115.5:p.Arg1036=
ENST00000452699.5:c.3395T>C	ENSP00000413307.1:p.Val1132Ala
ENST00000466561.1:n.1456T>C
ENST00000502418.1:c.828T>C	ENSP00000423065.1:p.Arg276=
NM_001141973.2:c.3395T>C	NP_001135445.1:p.Val1132Ala
NM_001141974.2:c.3108T>C	NP_001135446.1:p.Arg1036=
NM_022089.3:c.3410T>C	NP_071372.1:p.Val1137Ala
XM_005245809.1:c.3240T>C	XP_005245866.1:p.Arg1080=
XM_005245810.1:c.3237T>C	XP_005245867.1:p.Arg1079=
XM_005245811.1:c.3225T>C	XP_005245868.1:p.Arg1075=
XM_005245812.1:c.3213T>C	XP_005245869.1:p.Arg1071=
XM_005245813.1:c.3180T>C	XP_005245870.1:p.Arg1060=
XM_005245815.1:c.3123T>C	XP_005245872.1:p.Arg1041=
XM_006710512.1:c.3222T>C	XP_006710575.1:p.Arg1074=
XM_006710513.1:c.3198T>C	XP_006710576.1:p.Arg1066=
XM_011541128.1:c.3225T>C	XP_011539430.1:p.Arg1075=
XM_011541129.1:c.3033T>C	XP_011539431.1:p.Arg1011=
XM_017000844.1:c.3395T>C	XP_016856333.1:p.Val1132Ala
XM_017000845.1:c.3392T>C	XP_016856334.1:p.Val1131Ala
XM_017000846.1:c.3368T>C	XP_016856335.1:p.Val1123Ala
XM_017000847.1:c.3365T>C	XP_016856336.1:p.Val1122Ala
XM_017000848.1:c.3293T>C	XP_016856337.1:p.Val1098Ala
XM_017000849.1:c.3278T>C	XP_016856338.1:p.Val1093Ala
XM_017000850.1:c.3203T>C	XP_016856339.1:p.Val1068Ala
NM_022089.4:c.3410T>C MANE Select	NP_071372.1:p.Val1137Ala
NM_001141973.3:c.3395T>C	NP_001135445.1:p.Val1132Ala
NM_001141974.3:c.3108T>C	NP_001135446.1:p.Arg1036=