Canonical Allele Identifier: CA338232398

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986306-C-A
• MyVariant Identifiers: chr1:g.17312801C>A (hg19) ; chr1:g.16986306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986306C>A , CM000663.2:g.16986306C>A	GRCh38
NC_000001.10:g.17312801C>A , CM000663.1:g.17312801C>A	GRCh37
NC_000001.9:g.17185388C>A	NCBI36
NG_009054.1:g.30623G>T
NG_029688.1:g.281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3458G>T MANE Select	ENSP00000327214.8:p.Arg1153Leu
ENST00000326735.12:c.3458G>T	ENSP00000327214.8:p.Arg1153Leu
ENST00000341676.9:c.3156G>T	ENSP00000341115.5:p.Ala1052=
ENST00000452699.5:c.3443G>T	ENSP00000413307.1:p.Arg1148Leu
ENST00000466561.1:n.1504G>T
ENST00000502418.1:c.876G>T	ENSP00000423065.1:p.Ala292=
NM_001141973.2:c.3443G>T	NP_001135445.1:p.Arg1148Leu
NM_001141974.2:c.3156G>T	NP_001135446.1:p.Ala1052=
NM_022089.3:c.3458G>T	NP_071372.1:p.Arg1153Leu
XM_005245809.1:c.3288G>T	XP_005245866.1:p.Ala1096=
XM_005245810.1:c.3285G>T	XP_005245867.1:p.Ala1095=
XM_005245811.1:c.3273G>T	XP_005245868.1:p.Ala1091=
XM_005245812.1:c.3261G>T	XP_005245869.1:p.Ala1087=
XM_005245813.1:c.3228G>T	XP_005245870.1:p.Ala1076=
XM_005245815.1:c.3171G>T	XP_005245872.1:p.Ala1057=
XM_006710512.1:c.3270G>T	XP_006710575.1:p.Ala1090=
XM_006710513.1:c.3246G>T	XP_006710576.1:p.Ala1082=
XM_011541128.1:c.3273G>T	XP_011539430.1:p.Ala1091=
XM_011541129.1:c.3081G>T	XP_011539431.1:p.Ala1027=
XM_017000844.1:c.3443G>T	XP_016856333.1:p.Arg1148Leu
XM_017000845.1:c.3440G>T	XP_016856334.1:p.Arg1147Leu
XM_017000846.1:c.3416G>T	XP_016856335.1:p.Arg1139Leu
XM_017000847.1:c.3413G>T	XP_016856336.1:p.Arg1138Leu
XM_017000848.1:c.3341G>T	XP_016856337.1:p.Arg1114Leu
XM_017000849.1:c.3326G>T	XP_016856338.1:p.Arg1109Leu
XM_017000850.1:c.3251G>T	XP_016856339.1:p.Arg1084Leu
NM_022089.4:c.3458G>T MANE Select	NP_071372.1:p.Arg1153Leu
NM_001141973.3:c.3443G>T	NP_001135445.1:p.Arg1148Leu
NM_001141974.3:c.3156G>T	NP_001135446.1:p.Ala1052=