Canonical Allele Identifier: CA1857190192

Gene: VPS13A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77303007A= , CM000671.2:g.77303007A=	GRCh38
NC_000009.11:g.79917923A= , CM000671.1:g.79917923A=	GRCh37
NC_000009.10:g.79107743A=	NCBI36
NG_008931.1:g.130563A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.3905A= MANE Select	ENSP00000353422.3:p.Glu1302=
ENST00000643348.1:c.3905A=	ENSP00000493592.1:p.Glu1302=
ENST00000645632.1:c.3905A=	ENSP00000496361.1:p.Glu1302=
ENST00000357409.9:c.3905A=	ENSP00000349985.5:p.Glu1302=
ENST00000360280.7:c.3905A=	ENSP00000353422.3:p.Glu1302=
ENST00000376634.8:c.3905A=	ENSP00000365821.4:p.Glu1302=
ENST00000376636.7:c.3788A=	ENSP00000365823.3:p.Glu1263=
ENST00000423463.6:n.1195A=
ENST00000493341.1:c.413A=	ENSP00000437478.1:p.Glu138=
NM_001018037.1:c.3788A=	NP_001018047.1:p.Glu1263=
NM_001018038.2:c.3905A=	NP_001018048.1:p.Glu1302=
NM_015186.3:c.3905A=	NP_056001.1:p.Glu1302=
NM_033305.2:c.3905A=	NP_150648.2:p.Glu1302=
XR_242579.2:n.4257A=
XR_242580.3:n.4257A=
XR_929740.1:n.4257A=
XR_001746259.1:n.4257A=
XR_001746260.1:n.4257A=
NM_033305.3:c.3905A= MANE Select	NP_150648.2:p.Glu1302=
NM_001018037.2:c.3788A=	NP_001018047.1:p.Glu1263=
NM_001018038.3:c.3905A=	NP_001018048.1:p.Glu1302=
NM_015186.4:c.3905A=	NP_056001.1:p.Glu1302=