Canonical Allele Identifier: CA338232175

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986264-G-T
• MyVariant Identifiers: chr1:g.17312759G>T (hg19) ; chr1:g.16986264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986264G>T , CM000663.2:g.16986264G>T	GRCh38
NC_000001.10:g.17312759G>T , CM000663.1:g.17312759G>T	GRCh37
NC_000001.9:g.17185346G>T	NCBI36
NG_009054.1:g.30665C>A
NG_029688.1:g.323C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3500C>A MANE Select	ENSP00000327214.8:p.Ala1167Asp
ENST00000326735.12:c.3500C>A	ENSP00000327214.8:p.Ala1167Asp
ENST00000341676.9:c.3198C>A	ENSP00000341115.5:p.Gly1066=
ENST00000452699.5:c.3485C>A	ENSP00000413307.1:p.Ala1162Asp
ENST00000466561.1:n.1546C>A
ENST00000502418.1:c.918C>A	ENSP00000423065.1:p.Gly306=
NM_001141973.2:c.3485C>A	NP_001135445.1:p.Ala1162Asp
NM_001141974.2:c.3198C>A	NP_001135446.1:p.Gly1066=
NM_022089.3:c.3500C>A	NP_071372.1:p.Ala1167Asp
XM_005245809.1:c.3330C>A	XP_005245866.1:p.Gly1110=
XM_005245810.1:c.3327C>A	XP_005245867.1:p.Gly1109=
XM_005245811.1:c.3315C>A	XP_005245868.1:p.Gly1105=
XM_005245812.1:c.3303C>A	XP_005245869.1:p.Gly1101=
XM_005245813.1:c.3270C>A	XP_005245870.1:p.Gly1090=
XM_005245815.1:c.3213C>A	XP_005245872.1:p.Gly1071=
XM_006710512.1:c.3312C>A	XP_006710575.1:p.Gly1104=
XM_006710513.1:c.3288C>A	XP_006710576.1:p.Gly1096=
XM_011541128.1:c.3315C>A	XP_011539430.1:p.Gly1105=
XM_011541129.1:c.3123C>A	XP_011539431.1:p.Gly1041=
XM_017000844.1:c.3485C>A	XP_016856333.1:p.Ala1162Asp
XM_017000845.1:c.3482C>A	XP_016856334.1:p.Ala1161Asp
XM_017000846.1:c.3458C>A	XP_016856335.1:p.Ala1153Asp
XM_017000847.1:c.3455C>A	XP_016856336.1:p.Ala1152Asp
XM_017000848.1:c.3383C>A	XP_016856337.1:p.Ala1128Asp
XM_017000849.1:c.3368C>A	XP_016856338.1:p.Ala1123Asp
XM_017000850.1:c.3293C>A	XP_016856339.1:p.Ala1098Asp
NM_022089.4:c.3500C>A MANE Select	NP_071372.1:p.Ala1167Asp
NM_001141973.3:c.3485C>A	NP_001135445.1:p.Ala1162Asp
NM_001141974.3:c.3198C>A	NP_001135446.1:p.Gly1066=