Canonical Allele Identifier: CA338233588

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313377A>T (hg19) ; chr1:g.16986882A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986882A>T , CM000663.2:g.16986882A>T	GRCh38
NC_000001.10:g.17313377A>T , CM000663.1:g.17313377A>T	GRCh37
NC_000001.9:g.17185964A>T	NCBI36
NG_009054.1:g.30047T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3158T>A MANE Select	ENSP00000327214.8:p.Leu1053Gln
ENST00000326735.12:c.3158T>A	ENSP00000327214.8:p.Leu1053Gln
ENST00000341676.9:c.3026T>A	ENSP00000341115.5:p.Leu1009Gln
ENST00000452699.5:c.3143T>A	ENSP00000413307.1:p.Leu1048Gln
ENST00000466561.1:n.1032T>A
ENST00000502418.1:c.746T>A	ENSP00000423065.1:p.Leu249Gln
NM_001141973.2:c.3143T>A	NP_001135445.1:p.Leu1048Gln
NM_001141974.2:c.3026T>A	NP_001135446.1:p.Leu1009Gln
NM_022089.3:c.3158T>A	NP_071372.1:p.Leu1053Gln
XM_005245809.1:c.3158T>A	XP_005245866.1:p.Leu1053Gln
XM_005245810.1:c.3155T>A	XP_005245867.1:p.Leu1052Gln
XM_005245811.1:c.3143T>A	XP_005245868.1:p.Leu1048Gln
XM_005245812.1:c.3131T>A	XP_005245869.1:p.Leu1044Gln
XM_005245813.1:c.3098T>A	XP_005245870.1:p.Leu1033Gln
XM_005245815.1:c.3041T>A	XP_005245872.1:p.Leu1014Gln
XM_006710512.1:c.3140T>A	XP_006710575.1:p.Leu1047Gln
XM_006710513.1:c.3116T>A	XP_006710576.1:p.Leu1039Gln
XM_011541128.1:c.3143T>A	XP_011539430.1:p.Leu1048Gln
XM_011541129.1:c.2951T>A	XP_011539431.1:p.Leu984Gln
XM_017000844.1:c.3143T>A	XP_016856333.1:p.Leu1048Gln
XM_017000845.1:c.3140T>A	XP_016856334.1:p.Leu1047Gln
XM_017000846.1:c.3116T>A	XP_016856335.1:p.Leu1039Gln
XM_017000847.1:c.3113T>A	XP_016856336.1:p.Leu1038Gln
XM_017000848.1:c.3041T>A	XP_016856337.1:p.Leu1014Gln
XM_017000849.1:c.3026T>A	XP_016856338.1:p.Leu1009Gln
XM_017000850.1:c.2951T>A	XP_016856339.1:p.Leu984Gln
NM_022089.4:c.3158T>A MANE Select	NP_071372.1:p.Leu1053Gln
NM_001141973.3:c.3143T>A	NP_001135445.1:p.Leu1048Gln
NM_001141974.3:c.3026T>A	NP_001135446.1:p.Leu1009Gln