Canonical Allele Identifier: CA194373070

Gene: VPS13A

Linked Data

• ClinVar Variation Id: 452465
• ClinVar RCV Id: RCV000521085 ; RCV001835838
• dbSNP Id: rs1037030970
• gnomAD v4: 9-77275496-A-T
• MyVariant Identifiers: chr9:g.79890412A>T (hg19) ; chr9:g.77275496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77275496A>T , CM000671.2:g.77275496A>T	GRCh38
NC_000009.11:g.79890412A>T , CM000671.1:g.79890412A>T	GRCh37
NC_000009.10:g.79080232A>T	NCBI36
NG_008931.1:g.103052A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.2513-2A>T MANE Select	ENSP00000353422.3:n.2513-2A>T
ENST00000643348.1:c.2513-2A>T	ENSP00000493592.1:n.2513-2A>T
ENST00000645632.1:c.2513-2A>T	ENSP00000496361.1:n.2513-2A>T
ENST00000357409.9:c.2513-2A>T	ENSP00000349985.5:n.2513-2A>T
ENST00000360280.7:c.2513-2A>T	ENSP00000353422.3:n.2513-2A>T
ENST00000376634.8:c.2513-2A>T	ENSP00000365821.4:n.2513-2A>T
ENST00000376636.7:c.2513-2A>T	ENSP00000365823.3:n.2513-2A>T
NM_001018037.1:c.2513-2A>T	NP_001018047.1:n.2513-2A>T
NM_001018038.2:c.2513-2A>T	NP_001018048.1:n.2513-2A>T
NM_015186.3:c.2513-2A>T	NP_056001.1:n.2513-2A>T
NM_033305.2:c.2513-2A>T	NP_150648.2:n.2513-2A>T
XR_242579.2:n.2865-2A>T
XR_242580.3:n.2865-2A>T
XR_929740.1:n.2865-2A>T
XR_001746259.1:n.2865-2A>T
XR_001746260.1:n.2865-2A>T
NM_033305.3:c.2513-2A>T MANE Select	NP_150648.2:n.2513-2A>T
NM_001018037.2:c.2513-2A>T	NP_001018047.1:n.2513-2A>T
NM_001018038.3:c.2513-2A>T	NP_001018048.1:n.2513-2A>T
NM_015186.4:c.2513-2A>T	NP_056001.1:n.2513-2A>T