Canonical Allele Identifier: CA9924319

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58444143A>G , CM000682.2:g.58444143A>G	GRCh38
NC_000020.10:g.57019199A>G , CM000682.1:g.57019199A>G	GRCh37
NC_000020.9:g.56452605A>G	NCBI36
NG_008073.2:g.59955A>G , LRG_656:g.59955A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.640A>G MANE Select	NP_004729.1:p.Thr214Ala
ENST00000475243.6:c.640A>G MANE Select	ENSP00000417175.1:p.Thr214Ala
NM_001195677.1:c.278A>G	NP_001182606.1:p.Asn93Ser
NM_001195677.2:c.278A>G	NP_001182606.1:p.Asn93Ser
NM_004738.4:c.640A>G , LRG_656t1:c.640A>G	NP_004729.1:p.Thr214Ala
NR_036633.1:n.796A>G
NR_036633.2:n.686A>G
ENST00000265619.6:n.834A>G
ENST00000395802.7:c.278A>G	ENSP00000379147.3:p.Asn93Ser
ENST00000463370.5:n.984A>G
ENST00000475243.5:c.640A>G	ENSP00000417175.1:p.Thr214Ala
ENST00000476395.1:n.2174A>G
ENST00000520497.1:c.*239A>G	ENSP00000430426.1:n.*239A>G