Canonical Allele Identifier: CA373852698

Gene: VPS13A

Linked Data

• dbSNP Id: rs1421117318
• gnomAD v2: 9-79917921-G-T
• gnomAD v4: 9-77303005-G-T
• COSMIC: COSM754154 ; COSM754155 ; COSM1151325
• MyVariant Identifiers: chr9:g.79917921G>T (hg19) ; chr9:g.77303005G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77303005G>T , CM000671.2:g.77303005G>T	GRCh38
NC_000009.11:g.79917921G>T , CM000671.1:g.79917921G>T	GRCh37
NC_000009.10:g.79107741G>T	NCBI36
NG_008931.1:g.130561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.3903G>T MANE Select	ENSP00000353422.3:p.Trp1301Cys
ENST00000643348.1:c.3903G>T	ENSP00000493592.1:p.Trp1301Cys
ENST00000645632.1:c.3903G>T	ENSP00000496361.1:p.Trp1301Cys
ENST00000357409.9:c.3903G>T	ENSP00000349985.5:p.Trp1301Cys
ENST00000360280.7:c.3903G>T	ENSP00000353422.3:p.Trp1301Cys
ENST00000376634.8:c.3903G>T	ENSP00000365821.4:p.Trp1301Cys
ENST00000376636.7:c.3786G>T	ENSP00000365823.3:p.Trp1262Cys
ENST00000423463.6:n.1193G>T
ENST00000493341.1:c.411G>T	ENSP00000437478.1:p.Trp137Cys
NM_001018037.1:c.3786G>T	NP_001018047.1:p.Trp1262Cys
NM_001018038.2:c.3903G>T	NP_001018048.1:p.Trp1301Cys
NM_015186.3:c.3903G>T	NP_056001.1:p.Trp1301Cys
NM_033305.2:c.3903G>T	NP_150648.2:p.Trp1301Cys
XR_242579.2:n.4255G>T
XR_242580.3:n.4255G>T
XR_929740.1:n.4255G>T
XR_001746259.1:n.4255G>T
XR_001746260.1:n.4255G>T
NM_033305.3:c.3903G>T MANE Select	NP_150648.2:p.Trp1301Cys
NM_001018037.2:c.3786G>T	NP_001018047.1:p.Trp1262Cys
NM_001018038.3:c.3903G>T	NP_001018048.1:p.Trp1301Cys
NM_015186.4:c.3903G>T	NP_056001.1:p.Trp1301Cys