Canonical Allele Identifier: CA2372300132
Community Standard Title: NM_004738.5(VAPB):c.166C= (p.Pro56=)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58418318C= , CM000682.2:g.58418318C= GRCh38
NC_000020.10:g.56993374C= , CM000682.1:g.56993374C= GRCh37
NC_000020.9:g.56426780C= NCBI36
NG_008073.2:g.34130C= , LRG_656:g.34130C=

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.166C= MANE Select NP_004729.1:p.Pro56=
ENST00000475243.6:c.166C= MANE Select ENSP00000417175.1:p.Pro56=
NM_001195677.1:c.166C= NP_001182606.1:p.Pro56=
NM_001195677.2:c.166C= NP_001182606.1:p.Pro56=
NM_004738.4:c.166C= , LRG_656t1:c.166C= NP_004729.1:p.Pro56=
NR_036633.1:n.507C=
NR_036633.2:n.397C=
ENST00000265619.6:n.464C=
ENST00000395802.7:c.166C= ENSP00000379147.3:p.Pro56=
ENST00000475243.5:c.166C= ENSP00000417175.1:p.Pro56=
ENST00000520497.1:c.166C= ENSP00000430426.1:p.Pro56=
XR_001754433.2:n.415C=