Canonical Allele Identifier: CA338233214

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986624-G-C
• MyVariant Identifiers: chr1:g.17313119G>C (hg19) ; chr1:g.16986624G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986624G>C , CM000663.2:g.16986624G>C	GRCh38
NC_000001.10:g.17313119G>C , CM000663.1:g.17313119G>C	GRCh37
NC_000001.9:g.17185706G>C	NCBI36
NG_009054.1:g.30305C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3244C>G MANE Select	ENSP00000327214.8:p.Leu1082Val
ENST00000326735.12:c.3244C>G	ENSP00000327214.8:p.Leu1082Val
ENST00000341676.9:c.3103+181C>G	ENSP00000341115.5:n.3103+181C>G
ENST00000452699.5:c.3229C>G	ENSP00000413307.1:p.Leu1077Val
ENST00000466561.1:n.1290C>G
ENST00000502418.1:c.823+181C>G	ENSP00000423065.1:n.823+181C>G
NM_001141973.2:c.3229C>G	NP_001135445.1:p.Leu1077Val
NM_001141974.2:c.3103+181C>G	NP_001135446.1:n.3103+181C>G
NM_022089.3:c.3244C>G	NP_071372.1:p.Leu1082Val
XM_005245809.1:c.3235+181C>G	XP_005245866.1:n.3235+181C>G
XM_005245810.1:c.3232+181C>G	XP_005245867.1:n.3232+181C>G
XM_005245811.1:c.3220+181C>G	XP_005245868.1:n.3220+181C>G
XM_005245812.1:c.3208+181C>G	XP_005245869.1:n.3208+181C>G
XM_005245813.1:c.3175+181C>G	XP_005245870.1:n.3175+181C>G
XM_005245815.1:c.3118+181C>G	XP_005245872.1:n.3118+181C>G
XM_006710512.1:c.3217+181C>G	XP_006710575.1:n.3217+181C>G
XM_006710513.1:c.3193+181C>G	XP_006710576.1:n.3193+181C>G
XM_011541128.1:c.3220+181C>G	XP_011539430.1:n.3220+181C>G
XM_011541129.1:c.3028+181C>G	XP_011539431.1:n.3028+181C>G
XM_017000844.1:c.3229C>G	XP_016856333.1:p.Leu1077Val
XM_017000845.1:c.3226C>G	XP_016856334.1:p.Leu1076Val
XM_017000846.1:c.3202C>G	XP_016856335.1:p.Leu1068Val
XM_017000847.1:c.3199C>G	XP_016856336.1:p.Leu1067Val
XM_017000848.1:c.3127C>G	XP_016856337.1:p.Leu1043Val
XM_017000849.1:c.3112C>G	XP_016856338.1:p.Leu1038Val
XM_017000850.1:c.3037C>G	XP_016856339.1:p.Leu1013Val
NM_022089.4:c.3244C>G MANE Select	NP_071372.1:p.Leu1082Val
NM_001141973.3:c.3229C>G	NP_001135445.1:p.Leu1077Val
NM_001141974.3:c.3103+181C>G	NP_001135446.1:n.3103+181C>G