Canonical Allele Identifier: CA9924334

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58444222A>G , CM000682.2:g.58444222A>G	GRCh38
NC_000020.10:g.57019278A>G , CM000682.1:g.57019278A>G	GRCh37
NC_000020.9:g.56452684A>G	NCBI36
NG_008073.2:g.60034A>G , LRG_656:g.60034A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.719A>G MANE Select	NP_004729.1:p.Lys240Arg
ENST00000475243.6:c.719A>G MANE Select	ENSP00000417175.1:p.Lys240Arg
NM_001195677.1:c.*57A>G	NP_001182606.1:n.*57A>G
NM_001195677.2:c.*57A>G	NP_001182606.1:n.*57A>G
NM_004738.4:c.719A>G , LRG_656t1:c.719A>G	NP_004729.1:p.Lys240Arg
NR_036633.1:n.875A>G
NR_036633.2:n.765A>G
ENST00000265619.6:n.913A>G
ENST00000395802.7:c.*57A>G	ENSP00000379147.3:n.*57A>G
ENST00000463370.5:n.1063A>G
ENST00000475243.5:c.719A>G	ENSP00000417175.1:p.Lys240Arg
ENST00000476395.1:n.2253A>G
ENST00000520497.1:c.*318A>G	ENSP00000430426.1:n.*318A>G