Canonical Allele Identifier: CA511066888
Community Standard Title: NM_004738.5(VAPB):c.207A>G (p.Val69=)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58418359A>G , CM000682.2:g.58418359A>G GRCh38
NC_000020.10:g.56993415A>G , CM000682.1:g.56993415A>G GRCh37
NC_000020.9:g.56426821A>G NCBI36
NG_008073.2:g.34171A>G , LRG_656:g.34171A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.207A>G MANE Select NP_004729.1:p.Val69=
ENST00000475243.6:c.207A>G MANE Select ENSP00000417175.1:p.Val69=
NM_001195677.1:c.207A>G NP_001182606.1:p.Val69=
NM_001195677.2:c.207A>G NP_001182606.1:p.Val69=
NM_004738.4:c.207A>G , LRG_656t1:c.207A>G NP_004729.1:p.Val69=
NR_036633.1:n.548A>G
NR_036633.2:n.438A>G
ENST00000265619.6:n.505A>G
ENST00000395802.7:c.207A>G ENSP00000379147.3:p.Val69=
ENST00000475243.5:c.207A>G ENSP00000417175.1:p.Val69=
ENST00000520497.1:c.207A>G ENSP00000430426.1:p.Val69=
XR_001754433.2:n.456A>G