Canonical Allele Identifier: CA409439437
Community Standard Title: NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58439005C>G , CM000682.2:g.58439005C>G GRCh38
NC_000020.10:g.57014061C>G , CM000682.1:g.57014061C>G GRCh37
NC_000020.9:g.56447467C>G NCBI36
NG_008073.2:g.54817C>G , LRG_656:g.54817C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.376C>G MANE Select NP_004729.1:p.Pro126Ala
ENST00000475243.6:c.376C>G MANE Select ENSP00000417175.1:p.Pro126Ala
NM_001195677.1:c.212-5072C>G NP_001182606.1:n.212-5072C>G
NM_001195677.2:c.212-5072C>G NP_001182606.1:n.212-5072C>G
NM_004738.4:c.376C>G , LRG_656t1:c.376C>G NP_004729.1:p.Pro126Ala
NR_036633.1:n.553-1902C>G
NR_036633.2:n.443-1902C>G
ENST00000265619.6:n.570C>G
ENST00000395802.7:c.212-5072C>G ENSP00000379147.3:n.212-5072C>G
ENST00000463370.5:n.720C>G
ENST00000475243.5:c.376C>G ENSP00000417175.1:p.Pro126Ala
ENST00000476395.1:n.29C>G
ENST00000520497.1:c.212-1902C>G ENSP00000430426.1:n.212-1902C>G
XR_001754433.2:n.625C>G