Canonical Allele Identifier: CA416093527

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312845T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986350T>G , CM000663.2:g.16986350T>G	GRCh38
NC_000001.10:g.17312845T>G , CM000663.1:g.17312845T>G	GRCh37
NC_000001.9:g.17185432T>G	NCBI36
NG_009054.1:g.30579A>C
NG_029688.1:g.237A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3414A>C MANE Select	ENSP00000327214.8:p.Leu1138=
ENST00000326735.12:c.3414A>C	ENSP00000327214.8:p.Leu1138=
ENST00000341676.9:c.3112A>C	ENSP00000341115.5:p.Arg1038=
ENST00000452699.5:c.3399A>C	ENSP00000413307.1:p.Leu1133=
ENST00000466561.1:n.1460A>C
ENST00000502418.1:c.832A>C	ENSP00000423065.1:p.Arg278=
NM_001141973.2:c.3399A>C	NP_001135445.1:p.Leu1133=
NM_001141974.2:c.3112A>C	NP_001135446.1:p.Arg1038=
NM_022089.3:c.3414A>C	NP_071372.1:p.Leu1138=
XM_005245809.1:c.3244A>C	XP_005245866.1:p.Arg1082=
XM_005245810.1:c.3241A>C	XP_005245867.1:p.Arg1081=
XM_005245811.1:c.3229A>C	XP_005245868.1:p.Arg1077=
XM_005245812.1:c.3217A>C	XP_005245869.1:p.Arg1073=
XM_005245813.1:c.3184A>C	XP_005245870.1:p.Arg1062=
XM_005245815.1:c.3127A>C	XP_005245872.1:p.Arg1043=
XM_006710512.1:c.3226A>C	XP_006710575.1:p.Arg1076=
XM_006710513.1:c.3202A>C	XP_006710576.1:p.Arg1068=
XM_011541128.1:c.3229A>C	XP_011539430.1:p.Arg1077=
XM_011541129.1:c.3037A>C	XP_011539431.1:p.Arg1013=
XM_017000844.1:c.3399A>C	XP_016856333.1:p.Leu1133=
XM_017000845.1:c.3396A>C	XP_016856334.1:p.Leu1132=
XM_017000846.1:c.3372A>C	XP_016856335.1:p.Leu1124=
XM_017000847.1:c.3369A>C	XP_016856336.1:p.Leu1123=
XM_017000848.1:c.3297A>C	XP_016856337.1:p.Leu1099=
XM_017000849.1:c.3282A>C	XP_016856338.1:p.Leu1094=
XM_017000850.1:c.3207A>C	XP_016856339.1:p.Leu1069=
NM_022089.4:c.3414A>C MANE Select	NP_071372.1:p.Leu1138=
NM_001141973.3:c.3399A>C	NP_001135445.1:p.Leu1133=
NM_001141974.3:c.3112A>C	NP_001135446.1:p.Arg1038=