Canonical Allele Identifier: CA16603455

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 387937
• ClinVar RCV Id: RCV000423915 ; RCV000794087
• dbSNP Id: rs1057522952
• gnomAD v4: 1-16986591-C-G
• MyVariant Identifiers: chr1:g.17313086C>G (hg19) ; chr1:g.16986591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986591C>G , CM000663.2:g.16986591C>G	GRCh38
NC_000001.10:g.17313086C>G , CM000663.1:g.17313086C>G	GRCh37
NC_000001.9:g.17185673C>G	NCBI36
NG_009054.1:g.30338G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3277G>C MANE Select	ENSP00000327214.8:p.Val1093Leu
ENST00000326735.12:c.3277G>C	ENSP00000327214.8:p.Val1093Leu
ENST00000341676.9:c.3103+214G>C	ENSP00000341115.5:n.3103+214G>C
ENST00000452699.5:c.3262G>C	ENSP00000413307.1:p.Val1088Leu
ENST00000466561.1:n.1323G>C
ENST00000502418.1:c.823+214G>C	ENSP00000423065.1:n.823+214G>C
NM_001141973.2:c.3262G>C	NP_001135445.1:p.Val1088Leu
NM_001141974.2:c.3103+214G>C	NP_001135446.1:n.3103+214G>C
NM_022089.3:c.3277G>C	NP_071372.1:p.Val1093Leu
XM_005245809.1:c.3235+214G>C	XP_005245866.1:n.3235+214G>C
XM_005245810.1:c.3232+214G>C	XP_005245867.1:n.3232+214G>C
XM_005245811.1:c.3220+214G>C	XP_005245868.1:n.3220+214G>C
XM_005245812.1:c.3208+214G>C	XP_005245869.1:n.3208+214G>C
XM_005245813.1:c.3175+214G>C	XP_005245870.1:n.3175+214G>C
XM_005245815.1:c.3118+214G>C	XP_005245872.1:n.3118+214G>C
XM_006710512.1:c.3217+214G>C	XP_006710575.1:n.3217+214G>C
XM_006710513.1:c.3193+214G>C	XP_006710576.1:n.3193+214G>C
XM_011541128.1:c.3220+214G>C	XP_011539430.1:n.3220+214G>C
XM_011541129.1:c.3028+214G>C	XP_011539431.1:n.3028+214G>C
XM_017000844.1:c.3262G>C	XP_016856333.1:p.Val1088Leu
XM_017000845.1:c.3259G>C	XP_016856334.1:p.Val1087Leu
XM_017000846.1:c.3235G>C	XP_016856335.1:p.Val1079Leu
XM_017000847.1:c.3232G>C	XP_016856336.1:p.Val1078Leu
XM_017000848.1:c.3160G>C	XP_016856337.1:p.Val1054Leu
XM_017000849.1:c.3145G>C	XP_016856338.1:p.Val1049Leu
XM_017000850.1:c.3070G>C	XP_016856339.1:p.Val1024Leu
NM_022089.4:c.3277G>C MANE Select	NP_071372.1:p.Val1093Leu
NM_001141973.3:c.3262G>C	NP_001135445.1:p.Val1088Leu
NM_001141974.3:c.3103+214G>C	NP_001135446.1:n.3103+214G>C