Canonical Allele Identifier: CA9924279

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58441057C>T , CM000682.2:g.58441057C>T	GRCh38
NC_000020.10:g.57016113C>T , CM000682.1:g.57016113C>T	GRCh37
NC_000020.9:g.56449519C>T	NCBI36
NG_008073.2:g.56869C>T , LRG_656:g.56869C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.547C>T MANE Select	NP_004729.1:p.Leu183=
ENST00000475243.6:c.547C>T MANE Select	ENSP00000417175.1:p.Leu183=
NM_001195677.1:c.212-3020C>T	NP_001182606.1:n.212-3020C>T
NM_001195677.2:c.212-3020C>T	NP_001182606.1:n.212-3020C>T
NM_004738.4:c.547C>T , LRG_656t1:c.547C>T	NP_004729.1:p.Leu183=
NR_036633.1:n.703C>T
NR_036633.2:n.593C>T
ENST00000265619.6:n.741C>T
ENST00000395802.7:c.212-3020C>T	ENSP00000379147.3:n.212-3020C>T
ENST00000463370.5:n.891C>T
ENST00000475243.5:c.547C>T	ENSP00000417175.1:p.Leu183=
ENST00000476395.1:n.2081C>T
ENST00000520497.1:c.*146C>T	ENSP00000430426.1:n.*146C>T