Canonical Allele Identifier: CA338233051

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1488939495
• gnomAD v2: 1-17313067-G-A
• gnomAD v4: 1-16986572-G-A
• MyVariant Identifiers: chr1:g.17313067G>A (hg19) ; chr1:g.16986572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986572G>A , CM000663.2:g.16986572G>A	GRCh38
NC_000001.10:g.17313067G>A , CM000663.1:g.17313067G>A	GRCh37
NC_000001.9:g.17185654G>A	NCBI36
NG_009054.1:g.30357C>T
NG_029688.1:g.15C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3296C>T MANE Select	ENSP00000327214.8:p.Pro1099Leu
ENST00000326735.12:c.3296C>T	ENSP00000327214.8:p.Pro1099Leu
ENST00000341676.9:c.3104-214C>T	ENSP00000341115.5:n.3104-214C>T
ENST00000452699.5:c.3281C>T	ENSP00000413307.1:p.Pro1094Leu
ENST00000466561.1:n.1342C>T
ENST00000502418.1:c.824-214C>T	ENSP00000423065.1:n.824-214C>T
NM_001141973.2:c.3281C>T	NP_001135445.1:p.Pro1094Leu
NM_001141974.2:c.3104-214C>T	NP_001135446.1:n.3104-214C>T
NM_022089.3:c.3296C>T	NP_071372.1:p.Pro1099Leu
XM_005245809.1:c.3236-214C>T	XP_005245866.1:n.3236-214C>T
XM_005245810.1:c.3233-214C>T	XP_005245867.1:n.3233-214C>T
XM_005245811.1:c.3221-214C>T	XP_005245868.1:n.3221-214C>T
XM_005245812.1:c.3209-214C>T	XP_005245869.1:n.3209-214C>T
XM_005245813.1:c.3176-214C>T	XP_005245870.1:n.3176-214C>T
XM_005245815.1:c.3119-214C>T	XP_005245872.1:n.3119-214C>T
XM_006710512.1:c.3218-214C>T	XP_006710575.1:n.3218-214C>T
XM_006710513.1:c.3194-214C>T	XP_006710576.1:n.3194-214C>T
XM_011541128.1:c.3221-214C>T	XP_011539430.1:n.3221-214C>T
XM_011541129.1:c.3029-214C>T	XP_011539431.1:n.3029-214C>T
XM_017000844.1:c.3281C>T	XP_016856333.1:p.Pro1094Leu
XM_017000845.1:c.3278C>T	XP_016856334.1:p.Pro1093Leu
XM_017000846.1:c.3254C>T	XP_016856335.1:p.Pro1085Leu
XM_017000847.1:c.3251C>T	XP_016856336.1:p.Pro1084Leu
XM_017000848.1:c.3179C>T	XP_016856337.1:p.Pro1060Leu
XM_017000849.1:c.3164C>T	XP_016856338.1:p.Pro1055Leu
XM_017000850.1:c.3089C>T	XP_016856339.1:p.Pro1030Leu
NM_022089.4:c.3296C>T MANE Select	NP_071372.1:p.Pro1099Leu
NM_001141973.3:c.3281C>T	NP_001135445.1:p.Pro1094Leu
NM_001141974.3:c.3104-214C>T	NP_001135446.1:n.3104-214C>T