Canonical Allele Identifier: CA338232548

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312840T>A (hg19) ; chr1:g.16986345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986345T>A , CM000663.2:g.16986345T>A	GRCh38
NC_000001.10:g.17312840T>A , CM000663.1:g.17312840T>A	GRCh37
NC_000001.9:g.17185427T>A	NCBI36
NG_009054.1:g.30584A>T
NG_029688.1:g.242A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3419A>T MANE Select	ENSP00000327214.8:p.Gln1140Leu
ENST00000326735.12:c.3419A>T	ENSP00000327214.8:p.Gln1140Leu
ENST00000341676.9:c.3117A>T	ENSP00000341115.5:p.Pro1039=
ENST00000452699.5:c.3404A>T	ENSP00000413307.1:p.Gln1135Leu
ENST00000466561.1:n.1465A>T
ENST00000502418.1:c.837A>T	ENSP00000423065.1:p.Pro279=
NM_001141973.2:c.3404A>T	NP_001135445.1:p.Gln1135Leu
NM_001141974.2:c.3117A>T	NP_001135446.1:p.Pro1039=
NM_022089.3:c.3419A>T	NP_071372.1:p.Gln1140Leu
XM_005245809.1:c.3249A>T	XP_005245866.1:p.Pro1083=
XM_005245810.1:c.3246A>T	XP_005245867.1:p.Pro1082=
XM_005245811.1:c.3234A>T	XP_005245868.1:p.Pro1078=
XM_005245812.1:c.3222A>T	XP_005245869.1:p.Pro1074=
XM_005245813.1:c.3189A>T	XP_005245870.1:p.Pro1063=
XM_005245815.1:c.3132A>T	XP_005245872.1:p.Pro1044=
XM_006710512.1:c.3231A>T	XP_006710575.1:p.Pro1077=
XM_006710513.1:c.3207A>T	XP_006710576.1:p.Pro1069=
XM_011541128.1:c.3234A>T	XP_011539430.1:p.Pro1078=
XM_011541129.1:c.3042A>T	XP_011539431.1:p.Pro1014=
XM_017000844.1:c.3404A>T	XP_016856333.1:p.Gln1135Leu
XM_017000845.1:c.3401A>T	XP_016856334.1:p.Gln1134Leu
XM_017000846.1:c.3377A>T	XP_016856335.1:p.Gln1126Leu
XM_017000847.1:c.3374A>T	XP_016856336.1:p.Gln1125Leu
XM_017000848.1:c.3302A>T	XP_016856337.1:p.Gln1101Leu
XM_017000849.1:c.3287A>T	XP_016856338.1:p.Gln1096Leu
XM_017000850.1:c.3212A>T	XP_016856339.1:p.Gln1071Leu
NM_022089.4:c.3419A>T MANE Select	NP_071372.1:p.Gln1140Leu
NM_001141973.3:c.3404A>T	NP_001135445.1:p.Gln1135Leu
NM_001141974.3:c.3117A>T	NP_001135446.1:p.Pro1039=