Canonical Allele Identifier: CA18624245

Gene: ATP13A2

Linked Data

• dbSNP Id: rs556938808
• gnomAD v4: 1-16986031-C-A
• MyVariant Identifiers: chr1:g.17312526C>A (hg19) ; chr1:g.16986031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986031C>A , CM000663.2:g.16986031C>A	GRCh38
NC_000001.10:g.17312526C>A , CM000663.1:g.17312526C>A	GRCh37
NC_000001.9:g.17185113C>A	NCBI36
NG_009054.1:g.30898G>T
NG_029688.1:g.556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*190G>T MANE Select	ENSP00000327214.8:n.*190G>T
ENST00000326735.12:c.*190G>T	ENSP00000327214.8:n.*190G>T
ENST00000341676.9:c.3431G>T	ENSP00000341115.5:p.Arg1144Leu
ENST00000452699.5:c.*190G>T	ENSP00000413307.1:n.*190G>T
ENST00000466561.1:n.1779G>T
ENST00000502418.1:c.1151G>T	ENSP00000423065.1:p.Arg384Leu
NM_001141973.2:c.*190G>T	NP_001135445.1:n.*190G>T
NM_001141974.2:c.3431G>T	NP_001135446.1:p.Arg1144Leu
NM_022089.3:c.*190G>T	NP_071372.1:n.*190G>T
XM_005245809.1:c.3563G>T	XP_005245866.1:p.Arg1188Leu
XM_005245810.1:c.3560G>T	XP_005245867.1:p.Arg1187Leu
XM_005245811.1:c.3548G>T	XP_005245868.1:p.Arg1183Leu
XM_005245812.1:c.3536G>T	XP_005245869.1:p.Arg1179Leu
XM_005245813.1:c.3503G>T	XP_005245870.1:p.Arg1168Leu
XM_005245815.1:c.3446G>T	XP_005245872.1:p.Arg1149Leu
XM_006710512.1:c.3545G>T	XP_006710575.1:p.Arg1182Leu
XM_006710513.1:c.3521G>T	XP_006710576.1:p.Arg1174Leu
XM_011541128.1:c.3548G>T	XP_011539430.1:p.Arg1183Leu
XM_011541129.1:c.3356G>T	XP_011539431.1:p.Arg1119Leu
XM_017000844.1:c.*190G>T	XP_016856333.1:n.*190G>T
XM_017000845.1:c.*190G>T	XP_016856334.1:n.*190G>T
XM_017000846.1:c.*190G>T	XP_016856335.1:n.*190G>T
XM_017000847.1:c.*190G>T	XP_016856336.1:n.*190G>T
XM_017000848.1:c.*190G>T	XP_016856337.1:n.*190G>T
XM_017000849.1:c.*190G>T	XP_016856338.1:n.*190G>T
XM_017000850.1:c.*190G>T	XP_016856339.1:n.*190G>T
NM_022089.4:c.*190G>T MANE Select	NP_071372.1:n.*190G>T
NM_001141973.3:c.*190G>T	NP_001135445.1:n.*190G>T
NM_001141974.3:c.3431G>T	NP_001135446.1:p.Arg1144Leu