Canonical Allele Identifier: CA511060690

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58434636G>A , CM000682.2:g.58434636G>A	GRCh38
NC_000020.10:g.57009692G>A , CM000682.1:g.57009692G>A	GRCh37
NC_000020.9:g.56443098G>A	NCBI36
NG_008073.2:g.50448G>A , LRG_656:g.50448G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.246G>A MANE Select	NP_004729.1:p.Glu82=
ENST00000475243.6:c.246G>A MANE Select	ENSP00000417175.1:p.Glu82=
NM_001195677.1:c.212-9441G>A	NP_001182606.1:n.212-9441G>A
NM_001195677.2:c.212-9441G>A	NP_001182606.1:n.212-9441G>A
NM_004738.4:c.246G>A , LRG_656t1:c.246G>A	NP_004729.1:p.Glu82=
NR_036633.1:n.553-6271G>A
NR_036633.2:n.443-6271G>A
ENST00000265619.6:n.510-4309G>A
ENST00000395802.7:c.212-9441G>A	ENSP00000379147.3:n.212-9441G>A
ENST00000463370.5:n.590G>A
ENST00000475243.5:c.246G>A	ENSP00000417175.1:p.Glu82=
ENST00000520497.1:c.212-6271G>A	ENSP00000430426.1:n.212-6271G>A
XR_001754433.2:n.495G>A