Canonical Allele Identifier: CA9924268

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58440996T>A , CM000682.2:g.58440996T>A	GRCh38
NC_000020.10:g.57016052T>A , CM000682.1:g.57016052T>A	GRCh37
NC_000020.9:g.56449458T>A	NCBI36
NG_008073.2:g.56808T>A , LRG_656:g.56808T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.486T>A MANE Select	NP_004729.1:p.Asp162Glu
ENST00000475243.6:c.486T>A MANE Select	ENSP00000417175.1:p.Asp162Glu
NM_001195677.1:c.212-3081T>A	NP_001182606.1:n.212-3081T>A
NM_001195677.2:c.212-3081T>A	NP_001182606.1:n.212-3081T>A
NM_004738.4:c.486T>A , LRG_656t1:c.486T>A	NP_004729.1:p.Asp162Glu
NR_036633.1:n.642T>A
NR_036633.2:n.532T>A
ENST00000265619.6:n.680T>A
ENST00000395802.7:c.212-3081T>A	ENSP00000379147.3:n.212-3081T>A
ENST00000463370.5:n.830T>A
ENST00000475243.5:c.486T>A	ENSP00000417175.1:p.Asp162Glu
ENST00000476395.1:n.2020T>A
ENST00000520497.1:c.*85T>A	ENSP00000430426.1:n.*85T>A