Canonical Allele Identifier: CA409439931
Community Standard Title: NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58389475C>G , CM000682.2:g.58389475C>G GRCh38
NC_000020.10:g.56964531C>G , CM000682.1:g.56964531C>G GRCh37
NC_000020.9:g.56397937C>G NCBI36
NG_008073.2:g.5287C>G , LRG_656:g.5287C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.16C>G MANE Select NP_004729.1:p.Gln6Glu
ENST00000475243.6:c.16C>G MANE Select ENSP00000417175.1:p.Gln6Glu
NM_001195677.1:c.16C>G NP_001182606.1:p.Gln6Glu
NM_001195677.2:c.16C>G NP_001182606.1:p.Gln6Glu
NM_004738.4:c.16C>G , LRG_656t1:c.16C>G NP_004729.1:p.Gln6Glu
NR_036633.1:n.357C>G
NR_036633.2:n.247C>G
ENST00000265619.6:n.101C>G
ENST00000395802.7:c.16C>G ENSP00000379147.3:p.Gln6Glu
ENST00000475243.5:c.16C>G ENSP00000417175.1:p.Gln6Glu
ENST00000520497.1:c.16C>G ENSP00000430426.1:p.Gln6Glu
XR_001754433.2:n.265C>G