Canonical Allele Identifier: CA316275989

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58441022A>T , CM000682.2:g.58441022A>T	GRCh38
NC_000020.10:g.57016078A>T , CM000682.1:g.57016078A>T	GRCh37
NC_000020.9:g.56449484A>T	NCBI36
NG_008073.2:g.56834A>T , LRG_656:g.56834A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.512A>T MANE Select	NP_004729.1:p.Glu171Val
ENST00000475243.6:c.512A>T MANE Select	ENSP00000417175.1:p.Glu171Val
NM_001195677.1:c.212-3055A>T	NP_001182606.1:n.212-3055A>T
NM_001195677.2:c.212-3055A>T	NP_001182606.1:n.212-3055A>T
NM_004738.4:c.512A>T , LRG_656t1:c.512A>T	NP_004729.1:p.Glu171Val
NR_036633.1:n.668A>T
NR_036633.2:n.558A>T
ENST00000265619.6:n.706A>T
ENST00000395802.7:c.212-3055A>T	ENSP00000379147.3:n.212-3055A>T
ENST00000463370.5:n.856A>T
ENST00000475243.5:c.512A>T	ENSP00000417175.1:p.Glu171Val
ENST00000476395.1:n.2046A>T
ENST00000520497.1:c.*111A>T	ENSP00000430426.1:n.*111A>T