Canonical Allele Identifier: CA338232012

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986244-G-A
• MyVariant Identifiers: chr1:g.17312739G>A (hg19) ; chr1:g.16986244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986244G>A , CM000663.2:g.16986244G>A	GRCh38
NC_000001.10:g.17312739G>A , CM000663.1:g.17312739G>A	GRCh37
NC_000001.9:g.17185326G>A	NCBI36
NG_009054.1:g.30685C>T
NG_029688.1:g.343C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3520C>T MANE Select	ENSP00000327214.8:p.Leu1174=
ENST00000326735.12:c.3520C>T	ENSP00000327214.8:p.Leu1174=
ENST00000341676.9:c.3218C>T	ENSP00000341115.5:p.Ala1073Val
ENST00000452699.5:c.3505C>T	ENSP00000413307.1:p.Leu1169=
ENST00000466561.1:n.1566C>T
ENST00000502418.1:c.938C>T	ENSP00000423065.1:p.Ala313Val
NM_001141973.2:c.3505C>T	NP_001135445.1:p.Leu1169=
NM_001141974.2:c.3218C>T	NP_001135446.1:p.Ala1073Val
NM_022089.3:c.3520C>T	NP_071372.1:p.Leu1174=
XM_005245809.1:c.3350C>T	XP_005245866.1:p.Ala1117Val
XM_005245810.1:c.3347C>T	XP_005245867.1:p.Ala1116Val
XM_005245811.1:c.3335C>T	XP_005245868.1:p.Ala1112Val
XM_005245812.1:c.3323C>T	XP_005245869.1:p.Ala1108Val
XM_005245813.1:c.3290C>T	XP_005245870.1:p.Ala1097Val
XM_005245815.1:c.3233C>T	XP_005245872.1:p.Ala1078Val
XM_006710512.1:c.3332C>T	XP_006710575.1:p.Ala1111Val
XM_006710513.1:c.3308C>T	XP_006710576.1:p.Ala1103Val
XM_011541128.1:c.3335C>T	XP_011539430.1:p.Ala1112Val
XM_011541129.1:c.3143C>T	XP_011539431.1:p.Ala1048Val
XM_017000844.1:c.3505C>T	XP_016856333.1:p.Leu1169=
XM_017000845.1:c.3502C>T	XP_016856334.1:p.Leu1168=
XM_017000846.1:c.3478C>T	XP_016856335.1:p.Leu1160=
XM_017000847.1:c.3475C>T	XP_016856336.1:p.Leu1159=
XM_017000848.1:c.3403C>T	XP_016856337.1:p.Leu1135=
XM_017000849.1:c.3388C>T	XP_016856338.1:p.Leu1130=
XM_017000850.1:c.3313C>T	XP_016856339.1:p.Leu1105=
NM_022089.4:c.3520C>T MANE Select	NP_071372.1:p.Leu1174=
NM_001141973.3:c.3505C>T	NP_001135445.1:p.Leu1169=
NM_001141974.3:c.3218C>T	NP_001135446.1:p.Ala1073Val