Canonical Allele Identifier: CA338232608

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986357-C-T
• MyVariant Identifiers: chr1:g.17312852C>T (hg19) ; chr1:g.16986357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986357C>T , CM000663.2:g.16986357C>T	GRCh38
NC_000001.10:g.17312852C>T , CM000663.1:g.17312852C>T	GRCh37
NC_000001.9:g.17185439C>T	NCBI36
NG_009054.1:g.30572G>A
NG_029688.1:g.230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3407G>A MANE Select	ENSP00000327214.8:p.Ser1136Asn
ENST00000326735.12:c.3407G>A	ENSP00000327214.8:p.Ser1136Asn
ENST00000341676.9:c.3105G>A	ENSP00000341115.5:p.Glu1035=
ENST00000452699.5:c.3392G>A	ENSP00000413307.1:p.Ser1131Asn
ENST00000466561.1:n.1453G>A
ENST00000502418.1:c.825G>A	ENSP00000423065.1:p.Glu275=
NM_001141973.2:c.3392G>A	NP_001135445.1:p.Ser1131Asn
NM_001141974.2:c.3105G>A	NP_001135446.1:p.Glu1035=
NM_022089.3:c.3407G>A	NP_071372.1:p.Ser1136Asn
XM_005245809.1:c.3237G>A	XP_005245866.1:p.Glu1079=
XM_005245810.1:c.3234G>A	XP_005245867.1:p.Glu1078=
XM_005245811.1:c.3222G>A	XP_005245868.1:p.Glu1074=
XM_005245812.1:c.3210G>A	XP_005245869.1:p.Glu1070=
XM_005245813.1:c.3177G>A	XP_005245870.1:p.Glu1059=
XM_005245815.1:c.3120G>A	XP_005245872.1:p.Glu1040=
XM_006710512.1:c.3219G>A	XP_006710575.1:p.Glu1073=
XM_006710513.1:c.3195G>A	XP_006710576.1:p.Glu1065=
XM_011541128.1:c.3222G>A	XP_011539430.1:p.Glu1074=
XM_011541129.1:c.3030G>A	XP_011539431.1:p.Glu1010=
XM_017000844.1:c.3392G>A	XP_016856333.1:p.Ser1131Asn
XM_017000845.1:c.3389G>A	XP_016856334.1:p.Ser1130Asn
XM_017000846.1:c.3365G>A	XP_016856335.1:p.Ser1122Asn
XM_017000847.1:c.3362G>A	XP_016856336.1:p.Ser1121Asn
XM_017000848.1:c.3290G>A	XP_016856337.1:p.Ser1097Asn
XM_017000849.1:c.3275G>A	XP_016856338.1:p.Ser1092Asn
XM_017000850.1:c.3200G>A	XP_016856339.1:p.Ser1067Asn
NM_022089.4:c.3407G>A MANE Select	NP_071372.1:p.Ser1136Asn
NM_001141973.3:c.3392G>A	NP_001135445.1:p.Ser1131Asn
NM_001141974.3:c.3105G>A	NP_001135446.1:p.Glu1035=