Canonical Allele Identifier: CA9924215
Community Standard Title: NM_004738.5(VAPB):c.315A>G (p.Val105=)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58434705A>G , CM000682.2:g.58434705A>G GRCh38
NC_000020.10:g.57009761A>G , CM000682.1:g.57009761A>G GRCh37
NC_000020.9:g.56443167A>G NCBI36
NG_008073.2:g.50517A>G , LRG_656:g.50517A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.315A>G MANE Select NP_004729.1:p.Val105=
ENST00000475243.6:c.315A>G MANE Select ENSP00000417175.1:p.Val105=
NM_001195677.1:c.212-9372A>G NP_001182606.1:n.212-9372A>G
NM_001195677.2:c.212-9372A>G NP_001182606.1:n.212-9372A>G
NM_004738.4:c.315A>G , LRG_656t1:c.315A>G NP_004729.1:p.Val105=
NR_036633.1:n.553-6202A>G
NR_036633.2:n.443-6202A>G
ENST00000265619.6:n.510-4240A>G
ENST00000395802.7:c.212-9372A>G ENSP00000379147.3:n.212-9372A>G
ENST00000463370.5:n.659A>G
ENST00000475243.5:c.315A>G ENSP00000417175.1:p.Val105=
ENST00000520497.1:c.212-6202A>G ENSP00000430426.1:n.212-6202A>G
XR_001754433.2:n.564A>G