Canonical Allele Identifier: CA338230503

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986040-G-T
• MyVariant Identifiers: chr1:g.17312535G>T (hg19) ; chr1:g.16986040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986040G>T , CM000663.2:g.16986040G>T	GRCh38
NC_000001.10:g.17312535G>T , CM000663.1:g.17312535G>T	GRCh37
NC_000001.9:g.17185122G>T	NCBI36
NG_009054.1:g.30889C>A
NG_029688.1:g.547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*181C>A MANE Select	ENSP00000327214.8:n.*181C>A
ENST00000326735.12:c.*181C>A	ENSP00000327214.8:n.*181C>A
ENST00000341676.9:c.3422C>A	ENSP00000341115.5:p.Thr1141Asn
ENST00000452699.5:c.*181C>A	ENSP00000413307.1:n.*181C>A
ENST00000466561.1:n.1770C>A
ENST00000502418.1:c.1142C>A	ENSP00000423065.1:p.Thr381Asn
NM_001141973.2:c.*181C>A	NP_001135445.1:n.*181C>A
NM_001141974.2:c.3422C>A	NP_001135446.1:p.Thr1141Asn
NM_022089.3:c.*181C>A	NP_071372.1:n.*181C>A
XM_005245809.1:c.3554C>A	XP_005245866.1:p.Thr1185Asn
XM_005245810.1:c.3551C>A	XP_005245867.1:p.Thr1184Asn
XM_005245811.1:c.3539C>A	XP_005245868.1:p.Thr1180Asn
XM_005245812.1:c.3527C>A	XP_005245869.1:p.Thr1176Asn
XM_005245813.1:c.3494C>A	XP_005245870.1:p.Thr1165Asn
XM_005245815.1:c.3437C>A	XP_005245872.1:p.Thr1146Asn
XM_006710512.1:c.3536C>A	XP_006710575.1:p.Thr1179Asn
XM_006710513.1:c.3512C>A	XP_006710576.1:p.Thr1171Asn
XM_011541128.1:c.3539C>A	XP_011539430.1:p.Thr1180Asn
XM_011541129.1:c.3347C>A	XP_011539431.1:p.Thr1116Asn
XM_017000844.1:c.*181C>A	XP_016856333.1:n.*181C>A
XM_017000845.1:c.*181C>A	XP_016856334.1:n.*181C>A
XM_017000846.1:c.*181C>A	XP_016856335.1:n.*181C>A
XM_017000847.1:c.*181C>A	XP_016856336.1:n.*181C>A
XM_017000848.1:c.*181C>A	XP_016856337.1:n.*181C>A
XM_017000849.1:c.*181C>A	XP_016856338.1:n.*181C>A
XM_017000850.1:c.*181C>A	XP_016856339.1:n.*181C>A
NM_022089.4:c.*181C>A MANE Select	NP_071372.1:n.*181C>A
NM_001141973.3:c.*181C>A	NP_001135445.1:n.*181C>A
NM_001141974.3:c.3422C>A	NP_001135446.1:p.Thr1141Asn