Canonical Allele Identifier: CA338232197

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986270-T-C
• MyVariant Identifiers: chr1:g.17312765T>C (hg19) ; chr1:g.16986270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986270T>C , CM000663.2:g.16986270T>C	GRCh38
NC_000001.10:g.17312765T>C , CM000663.1:g.17312765T>C	GRCh37
NC_000001.9:g.17185352T>C	NCBI36
NG_009054.1:g.30659A>G
NG_029688.1:g.317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3494A>G MANE Select	ENSP00000327214.8:p.Glu1165Gly
ENST00000326735.12:c.3494A>G	ENSP00000327214.8:p.Glu1165Gly
ENST00000341676.9:c.3192A>G	ENSP00000341115.5:p.Arg1064=
ENST00000452699.5:c.3479A>G	ENSP00000413307.1:p.Glu1160Gly
ENST00000466561.1:n.1540A>G
ENST00000502418.1:c.912A>G	ENSP00000423065.1:p.Arg304=
NM_001141973.2:c.3479A>G	NP_001135445.1:p.Glu1160Gly
NM_001141974.2:c.3192A>G	NP_001135446.1:p.Arg1064=
NM_022089.3:c.3494A>G	NP_071372.1:p.Glu1165Gly
XM_005245809.1:c.3324A>G	XP_005245866.1:p.Arg1108=
XM_005245810.1:c.3321A>G	XP_005245867.1:p.Arg1107=
XM_005245811.1:c.3309A>G	XP_005245868.1:p.Arg1103=
XM_005245812.1:c.3297A>G	XP_005245869.1:p.Arg1099=
XM_005245813.1:c.3264A>G	XP_005245870.1:p.Arg1088=
XM_005245815.1:c.3207A>G	XP_005245872.1:p.Arg1069=
XM_006710512.1:c.3306A>G	XP_006710575.1:p.Arg1102=
XM_006710513.1:c.3282A>G	XP_006710576.1:p.Arg1094=
XM_011541128.1:c.3309A>G	XP_011539430.1:p.Arg1103=
XM_011541129.1:c.3117A>G	XP_011539431.1:p.Arg1039=
XM_017000844.1:c.3479A>G	XP_016856333.1:p.Glu1160Gly
XM_017000845.1:c.3476A>G	XP_016856334.1:p.Glu1159Gly
XM_017000846.1:c.3452A>G	XP_016856335.1:p.Glu1151Gly
XM_017000847.1:c.3449A>G	XP_016856336.1:p.Glu1150Gly
XM_017000848.1:c.3377A>G	XP_016856337.1:p.Glu1126Gly
XM_017000849.1:c.3362A>G	XP_016856338.1:p.Glu1121Gly
XM_017000850.1:c.3287A>G	XP_016856339.1:p.Glu1096Gly
NM_022089.4:c.3494A>G MANE Select	NP_071372.1:p.Glu1165Gly
NM_001141973.3:c.3479A>G	NP_001135445.1:p.Glu1160Gly
NM_001141974.3:c.3192A>G	NP_001135446.1:p.Arg1064=