Canonical Allele Identifier: CA373860752

Gene: VPS13A

Linked Data

• MyVariant Identifiers: chr9:g.79975469T>A (hg19) ; chr9:g.77360553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77360553T>A , CM000671.2:g.77360553T>A	GRCh38
NC_000009.11:g.79975469T>A , CM000671.1:g.79975469T>A	GRCh37
NC_000009.10:g.79165289T>A	NCBI36
NG_008931.1:g.188109T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360280.8:c.8123T>A MANE Select	ENSP00000353422.3:p.Ile2708Asn
ENST00000643348.1:c.8123T>A	ENSP00000493592.1:p.Ile2708Asn
ENST00000645632.1:c.8123T>A	ENSP00000496361.1:p.Ile2708Asn
ENST00000357409.9:c.8123T>A	ENSP00000349985.5:p.Ile2708Asn
ENST00000360280.7:c.8123T>A	ENSP00000353422.3:p.Ile2708Asn
ENST00000376634.8:c.8123T>A	ENSP00000365821.4:p.Ile2708Asn
ENST00000376636.7:c.8006T>A	ENSP00000365823.3:p.Ile2669Asn
NM_001018037.1:c.8006T>A	NP_001018047.1:p.Ile2669Asn
NM_001018038.2:c.8123T>A	NP_001018048.1:p.Ile2708Asn
NM_015186.3:c.8123T>A	NP_056001.1:p.Ile2708Asn
NM_033305.2:c.8123T>A	NP_150648.2:p.Ile2708Asn
XR_242579.2:n.8475T>A
XR_242580.3:n.8475T>A
XR_929740.1:n.8475T>A
XR_001746259.1:n.8475T>A
XR_001746260.1:n.8475T>A
NM_033305.3:c.8123T>A MANE Select	NP_150648.2:p.Ile2708Asn
NM_001018037.2:c.8006T>A	NP_001018047.1:p.Ile2669Asn
NM_001018038.3:c.8123T>A	NP_001018048.1:p.Ile2708Asn
NM_015186.4:c.8123T>A	NP_056001.1:p.Ile2708Asn