Canonical Allele Identifier: CA636607124
Community Standard Title: NM_004738.5(VAPB):c.397-12G>T
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58440895G>T , CM000682.2:g.58440895G>T GRCh38
NC_000020.10:g.57015951G>T , CM000682.1:g.57015951G>T GRCh37
NC_000020.9:g.56449357G>T NCBI36
NG_008073.2:g.56707G>T , LRG_656:g.56707G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.397-12G>T MANE Select NP_004729.1:n.397-12G>T
ENST00000475243.6:c.397-12G>T MANE Select ENSP00000417175.1:n.397-12G>T
NM_001195677.1:c.212-3182G>T NP_001182606.1:n.212-3182G>T
NM_001195677.2:c.212-3182G>T NP_001182606.1:n.212-3182G>T
NM_004738.4:c.397-12G>T , LRG_656t1:c.397-12G>T NP_004729.1:n.397-12G>T
NR_036633.1:n.553-12G>T
NR_036633.2:n.443-12G>T
ENST00000265619.6:n.591-12G>T
ENST00000395802.7:c.212-3182G>T ENSP00000379147.3:n.212-3182G>T
ENST00000463370.5:n.741-12G>T
ENST00000475243.5:c.397-12G>T ENSP00000417175.1:n.397-12G>T
ENST00000476395.1:n.1919G>T
ENST00000520497.1:c.212-12G>T ENSP00000430426.1:n.212-12G>T
XR_001754433.2:n.809-12G>T