Canonical Allele Identifier: CA10630465

Gene: VPS13A

Linked Data

• ClinVar Variation Id: 367403
• ClinVar RCV Id: RCV000281748 ; RCV002523815
• dbSNP Id: rs1057515657
• gnomAD v4: 9-77339728-T-C
• MyVariant Identifiers: chr9:g.79954644T>C (hg19) ; chr9:g.77339728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77339728T>C , CM000671.2:g.77339728T>C	GRCh38
NC_000009.11:g.79954644T>C , CM000671.1:g.79954644T>C	GRCh37
NC_000009.10:g.79144464T>C	NCBI36
NG_008931.1:g.167284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.6591T>C MANE Select	ENSP00000353422.3:p.Ala2197=
ENST00000643348.1:c.6591T>C	ENSP00000493592.1:p.Ala2197=
ENST00000645632.1:c.6591T>C	ENSP00000496361.1:p.Ala2197=
ENST00000357409.9:c.6591T>C	ENSP00000349985.5:p.Ala2197=
ENST00000360280.7:c.6591T>C	ENSP00000353422.3:p.Ala2197=
ENST00000376634.8:c.6591T>C	ENSP00000365821.4:p.Ala2197=
ENST00000376636.7:c.6474T>C	ENSP00000365823.3:p.Ala2158=
NM_001018037.1:c.6474T>C	NP_001018047.1:p.Ala2158=
NM_001018038.2:c.6591T>C	NP_001018048.1:p.Ala2197=
NM_015186.3:c.6591T>C	NP_056001.1:p.Ala2197=
NM_033305.2:c.6591T>C	NP_150648.2:p.Ala2197=
XR_242579.2:n.6943T>C
XR_242580.3:n.6943T>C
XR_929740.1:n.6943T>C
XR_001746259.1:n.6943T>C
XR_001746260.1:n.6943T>C
NM_033305.3:c.6591T>C MANE Select	NP_150648.2:p.Ala2197=
NM_001018037.2:c.6474T>C	NP_001018047.1:p.Ala2158=
NM_001018038.3:c.6591T>C	NP_001018048.1:p.Ala2197=
NM_015186.4:c.6591T>C	NP_056001.1:p.Ala2197=