Canonical Allele Identifier: CA338232599

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986355-C-A
• MyVariant Identifiers: chr1:g.17312850C>A (hg19) ; chr1:g.16986355C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986355C>A , CM000663.2:g.16986355C>A	GRCh38
NC_000001.10:g.17312850C>A , CM000663.1:g.17312850C>A	GRCh37
NC_000001.9:g.17185437C>A	NCBI36
NG_009054.1:g.30574G>T
NG_029688.1:g.232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3409G>T MANE Select	ENSP00000327214.8:p.Val1137Leu
ENST00000326735.12:c.3409G>T	ENSP00000327214.8:p.Val1137Leu
ENST00000341676.9:c.3107G>T	ENSP00000341115.5:p.Arg1036Leu
ENST00000452699.5:c.3394G>T	ENSP00000413307.1:p.Val1132Leu
ENST00000466561.1:n.1455G>T
ENST00000502418.1:c.827G>T	ENSP00000423065.1:p.Arg276Leu
NM_001141973.2:c.3394G>T	NP_001135445.1:p.Val1132Leu
NM_001141974.2:c.3107G>T	NP_001135446.1:p.Arg1036Leu
NM_022089.3:c.3409G>T	NP_071372.1:p.Val1137Leu
XM_005245809.1:c.3239G>T	XP_005245866.1:p.Arg1080Leu
XM_005245810.1:c.3236G>T	XP_005245867.1:p.Arg1079Leu
XM_005245811.1:c.3224G>T	XP_005245868.1:p.Arg1075Leu
XM_005245812.1:c.3212G>T	XP_005245869.1:p.Arg1071Leu
XM_005245813.1:c.3179G>T	XP_005245870.1:p.Arg1060Leu
XM_005245815.1:c.3122G>T	XP_005245872.1:p.Arg1041Leu
XM_006710512.1:c.3221G>T	XP_006710575.1:p.Arg1074Leu
XM_006710513.1:c.3197G>T	XP_006710576.1:p.Arg1066Leu
XM_011541128.1:c.3224G>T	XP_011539430.1:p.Arg1075Leu
XM_011541129.1:c.3032G>T	XP_011539431.1:p.Arg1011Leu
XM_017000844.1:c.3394G>T	XP_016856333.1:p.Val1132Leu
XM_017000845.1:c.3391G>T	XP_016856334.1:p.Val1131Leu
XM_017000846.1:c.3367G>T	XP_016856335.1:p.Val1123Leu
XM_017000847.1:c.3364G>T	XP_016856336.1:p.Val1122Leu
XM_017000848.1:c.3292G>T	XP_016856337.1:p.Val1098Leu
XM_017000849.1:c.3277G>T	XP_016856338.1:p.Val1093Leu
XM_017000850.1:c.3202G>T	XP_016856339.1:p.Val1068Leu
NM_022089.4:c.3409G>T MANE Select	NP_071372.1:p.Val1137Leu
NM_001141973.3:c.3394G>T	NP_001135445.1:p.Val1132Leu
NM_001141974.3:c.3107G>T	NP_001135446.1:p.Arg1036Leu