Canonical Allele Identifier: CA373989402

Gene: VPS13A VPS13A-AS1

Linked Data

• ClinVar Variation Id: 1325340
• ClinVar RCV Id: RCV001784015
• dbSNP Id: rs2131030007
• MyVariant Identifiers: chr9:g.79792634C>A (hg19) ; chr9:g.77177718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77177718C>A , CM000671.2:g.77177718C>A	GRCh38
NC_000009.11:g.79792634C>A , CM000671.1:g.79792634C>A	GRCh37
NC_000009.10:g.78982454C>A	NCBI36
NG_008931.1:g.5274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.14C>A (VPS13A) MANE Select	ENSP00000353422.3:p.Ser5Ter
ENST00000643348.1:c.14C>A (VPS13A)	ENSP00000493592.1:p.Ser5Ter
ENST00000645632.1:c.14C>A (VPS13A)	ENSP00000496361.1:p.Ser5Ter
ENST00000357409.9:c.14C>A (VPS13A)	ENSP00000349985.5:p.Ser5Ter
ENST00000360280.7:c.14C>A (VPS13A)	ENSP00000353422.3:p.Ser5Ter
ENST00000376634.8:c.14C>A (VPS13A)	ENSP00000365821.4:p.Ser5Ter
ENST00000376636.7:c.14C>A (VPS13A)	ENSP00000365823.3:p.Ser5Ter
NM_001018037.1:c.14C>A (VPS13A)	NP_001018047.1:p.Ser5Ter
NM_001018038.2:c.14C>A (VPS13A)	NP_001018048.1:p.Ser5Ter
NM_015186.3:c.14C>A (VPS13A)	NP_056001.1:p.Ser5Ter
NM_033305.2:c.14C>A (VPS13A)	NP_150648.2:p.Ser5Ter
NR_026668.2:n.200G>T (VPS13A-AS1)
XR_242579.2:n.366C>A (VPS13A)
XR_242580.3:n.366C>A (VPS13A)
XR_929740.1:n.366C>A (VPS13A)
XR_001746259.1:n.366C>A (VPS13A)
XR_001746260.1:n.366C>A (VPS13A)
NM_033305.3:c.14C>A (VPS13A) MANE Select	NP_150648.2:p.Ser5Ter
NM_001018037.2:c.14C>A (VPS13A)	NP_001018047.1:p.Ser5Ter
NM_001018038.3:c.14C>A (VPS13A)	NP_001018048.1:p.Ser5Ter
NM_015186.4:c.14C>A (VPS13A)	NP_056001.1:p.Ser5Ter