Canonical Allele Identifier: CA338232260

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1476682159
• gnomAD v2: 1-17312777-T-C
• gnomAD v3: 1-16986282-T-C
• gnomAD v4: 1-16986282-T-C
• MyVariant Identifiers: chr1:g.17312777T>C (hg19) ; chr1:g.16986282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986282T>C , CM000663.2:g.16986282T>C	GRCh38
NC_000001.10:g.17312777T>C , CM000663.1:g.17312777T>C	GRCh37
NC_000001.9:g.17185364T>C	NCBI36
NG_009054.1:g.30647A>G
NG_029688.1:g.305A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3482A>G MANE Select	ENSP00000327214.8:p.Gln1161Arg
ENST00000326735.12:c.3482A>G	ENSP00000327214.8:p.Gln1161Arg
ENST00000341676.9:c.3180A>G	ENSP00000341115.5:p.Ala1060=
ENST00000452699.5:c.3467A>G	ENSP00000413307.1:p.Gln1156Arg
ENST00000466561.1:n.1528A>G
ENST00000502418.1:c.900A>G	ENSP00000423065.1:p.Ala300=
NM_001141973.2:c.3467A>G	NP_001135445.1:p.Gln1156Arg
NM_001141974.2:c.3180A>G	NP_001135446.1:p.Ala1060=
NM_022089.3:c.3482A>G	NP_071372.1:p.Gln1161Arg
XM_005245809.1:c.3312A>G	XP_005245866.1:p.Ala1104=
XM_005245810.1:c.3309A>G	XP_005245867.1:p.Ala1103=
XM_005245811.1:c.3297A>G	XP_005245868.1:p.Ala1099=
XM_005245812.1:c.3285A>G	XP_005245869.1:p.Ala1095=
XM_005245813.1:c.3252A>G	XP_005245870.1:p.Ala1084=
XM_005245815.1:c.3195A>G	XP_005245872.1:p.Ala1065=
XM_006710512.1:c.3294A>G	XP_006710575.1:p.Ala1098=
XM_006710513.1:c.3270A>G	XP_006710576.1:p.Ala1090=
XM_011541128.1:c.3297A>G	XP_011539430.1:p.Ala1099=
XM_011541129.1:c.3105A>G	XP_011539431.1:p.Ala1035=
XM_017000844.1:c.3467A>G	XP_016856333.1:p.Gln1156Arg
XM_017000845.1:c.3464A>G	XP_016856334.1:p.Gln1155Arg
XM_017000846.1:c.3440A>G	XP_016856335.1:p.Gln1147Arg
XM_017000847.1:c.3437A>G	XP_016856336.1:p.Gln1146Arg
XM_017000848.1:c.3365A>G	XP_016856337.1:p.Gln1122Arg
XM_017000849.1:c.3350A>G	XP_016856338.1:p.Gln1117Arg
XM_017000850.1:c.3275A>G	XP_016856339.1:p.Gln1092Arg
NM_022089.4:c.3482A>G MANE Select	NP_071372.1:p.Gln1161Arg
NM_001141973.3:c.3467A>G	NP_001135445.1:p.Gln1156Arg
NM_001141974.3:c.3180A>G	NP_001135446.1:p.Ala1060=