Canonical Allele Identifier: CA409439214
Community Standard Title: NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58434673G>C , CM000682.2:g.58434673G>C GRCh38
NC_000020.10:g.57009729G>C , CM000682.1:g.57009729G>C GRCh37
NC_000020.9:g.56443135G>C NCBI36
NG_008073.2:g.50485G>C , LRG_656:g.50485G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.283G>C MANE Select NP_004729.1:p.Ala95Pro
ENST00000475243.6:c.283G>C MANE Select ENSP00000417175.1:p.Ala95Pro
NM_001195677.1:c.212-9404G>C NP_001182606.1:n.212-9404G>C
NM_001195677.2:c.212-9404G>C NP_001182606.1:n.212-9404G>C
NM_004738.4:c.283G>C , LRG_656t1:c.283G>C NP_004729.1:p.Ala95Pro
NR_036633.1:n.553-6234G>C
NR_036633.2:n.443-6234G>C
ENST00000265619.6:n.510-4272G>C
ENST00000395802.7:c.212-9404G>C ENSP00000379147.3:n.212-9404G>C
ENST00000463370.5:n.627G>C
ENST00000475243.5:c.283G>C ENSP00000417175.1:p.Ala95Pro
ENST00000520497.1:c.212-6234G>C ENSP00000430426.1:n.212-6234G>C
XR_001754433.2:n.532G>C