Canonical Allele Identifier: CA373852676

Gene: VPS13A

Linked Data

• gnomAD v4: 9-77302997-T-G
• MyVariant Identifiers: chr9:g.79917913T>G (hg19) ; chr9:g.77302997T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77302997T>G , CM000671.2:g.77302997T>G	GRCh38
NC_000009.11:g.79917913T>G , CM000671.1:g.79917913T>G	GRCh37
NC_000009.10:g.79107733T>G	NCBI36
NG_008931.1:g.130553T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.3895T>G MANE Select	ENSP00000353422.3:p.Leu1299Val
ENST00000643348.1:c.3895T>G	ENSP00000493592.1:p.Leu1299Val
ENST00000645632.1:c.3895T>G	ENSP00000496361.1:p.Leu1299Val
ENST00000357409.9:c.3895T>G	ENSP00000349985.5:p.Leu1299Val
ENST00000360280.7:c.3895T>G	ENSP00000353422.3:p.Leu1299Val
ENST00000376634.8:c.3895T>G	ENSP00000365821.4:p.Leu1299Val
ENST00000376636.7:c.3778T>G	ENSP00000365823.3:p.Leu1260Val
ENST00000423463.6:n.1185T>G
ENST00000493341.1:c.403T>G	ENSP00000437478.1:p.Leu135Val
NM_001018037.1:c.3778T>G	NP_001018047.1:p.Leu1260Val
NM_001018038.2:c.3895T>G	NP_001018048.1:p.Leu1299Val
NM_015186.3:c.3895T>G	NP_056001.1:p.Leu1299Val
NM_033305.2:c.3895T>G	NP_150648.2:p.Leu1299Val
XR_242579.2:n.4247T>G
XR_242580.3:n.4247T>G
XR_929740.1:n.4247T>G
XR_001746259.1:n.4247T>G
XR_001746260.1:n.4247T>G
NM_033305.3:c.3895T>G MANE Select	NP_150648.2:p.Leu1299Val
NM_001018037.2:c.3778T>G	NP_001018047.1:p.Leu1260Val
NM_001018038.3:c.3895T>G	NP_001018048.1:p.Leu1299Val
NM_015186.4:c.3895T>G	NP_056001.1:p.Leu1299Val