Canonical Allele Identifier: CA338232475

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986328-G-C
• MyVariant Identifiers: chr1:g.17312823G>C (hg19) ; chr1:g.16986328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986328G>C , CM000663.2:g.16986328G>C	GRCh38
NC_000001.10:g.17312823G>C , CM000663.1:g.17312823G>C	GRCh37
NC_000001.9:g.17185410G>C	NCBI36
NG_009054.1:g.30601C>G
NG_029688.1:g.259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3436C>G MANE Select	ENSP00000327214.8:p.Leu1146Val
ENST00000326735.12:c.3436C>G	ENSP00000327214.8:p.Leu1146Val
ENST00000341676.9:c.3134C>G	ENSP00000341115.5:p.Pro1045Arg
ENST00000452699.5:c.3421C>G	ENSP00000413307.1:p.Leu1141Val
ENST00000466561.1:n.1482C>G
ENST00000502418.1:c.854C>G	ENSP00000423065.1:p.Pro285Arg
NM_001141973.2:c.3421C>G	NP_001135445.1:p.Leu1141Val
NM_001141974.2:c.3134C>G	NP_001135446.1:p.Pro1045Arg
NM_022089.3:c.3436C>G	NP_071372.1:p.Leu1146Val
XM_005245809.1:c.3266C>G	XP_005245866.1:p.Pro1089Arg
XM_005245810.1:c.3263C>G	XP_005245867.1:p.Pro1088Arg
XM_005245811.1:c.3251C>G	XP_005245868.1:p.Pro1084Arg
XM_005245812.1:c.3239C>G	XP_005245869.1:p.Pro1080Arg
XM_005245813.1:c.3206C>G	XP_005245870.1:p.Pro1069Arg
XM_005245815.1:c.3149C>G	XP_005245872.1:p.Pro1050Arg
XM_006710512.1:c.3248C>G	XP_006710575.1:p.Pro1083Arg
XM_006710513.1:c.3224C>G	XP_006710576.1:p.Pro1075Arg
XM_011541128.1:c.3251C>G	XP_011539430.1:p.Pro1084Arg
XM_011541129.1:c.3059C>G	XP_011539431.1:p.Pro1020Arg
XM_017000844.1:c.3421C>G	XP_016856333.1:p.Leu1141Val
XM_017000845.1:c.3418C>G	XP_016856334.1:p.Leu1140Val
XM_017000846.1:c.3394C>G	XP_016856335.1:p.Leu1132Val
XM_017000847.1:c.3391C>G	XP_016856336.1:p.Leu1131Val
XM_017000848.1:c.3319C>G	XP_016856337.1:p.Leu1107Val
XM_017000849.1:c.3304C>G	XP_016856338.1:p.Leu1102Val
XM_017000850.1:c.3229C>G	XP_016856339.1:p.Leu1077Val
NM_022089.4:c.3436C>G MANE Select	NP_071372.1:p.Leu1146Val
NM_001141973.3:c.3421C>G	NP_001135445.1:p.Leu1141Val
NM_001141974.3:c.3134C>G	NP_001135446.1:p.Pro1045Arg