Canonical Allele Identifier: CA9924331

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58444203G>A , CM000682.2:g.58444203G>A	GRCh38
NC_000020.10:g.57019259G>A , CM000682.1:g.57019259G>A	GRCh37
NC_000020.9:g.56452665G>A	NCBI36
NG_008073.2:g.60015G>A , LRG_656:g.60015G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.700G>A MANE Select	NP_004729.1:p.Val234Ile
ENST00000475243.6:c.700G>A MANE Select	ENSP00000417175.1:p.Val234Ile
NM_001195677.1:c.*38G>A	NP_001182606.1:n.*38G>A
NM_001195677.2:c.*38G>A	NP_001182606.1:n.*38G>A
NM_004738.4:c.700G>A , LRG_656t1:c.700G>A	NP_004729.1:p.Val234Ile
NR_036633.1:n.856G>A
NR_036633.2:n.746G>A
ENST00000265619.6:n.894G>A
ENST00000395802.7:c.*38G>A	ENSP00000379147.3:n.*38G>A
ENST00000463370.5:n.1044G>A
ENST00000475243.5:c.700G>A	ENSP00000417175.1:p.Val234Ile
ENST00000476395.1:n.2234G>A
ENST00000520497.1:c.*299G>A	ENSP00000430426.1:n.*299G>A