Canonical Allele Identifier: CA9924169
Community Standard Title: NM_004738.5(VAPB):c.69C>T (p.Thr23=)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58418221C>T , CM000682.2:g.58418221C>T GRCh38
NC_000020.10:g.56993277C>T , CM000682.1:g.56993277C>T GRCh37
NC_000020.9:g.56426683C>T NCBI36
NG_008073.2:g.34033C>T , LRG_656:g.34033C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.69C>T MANE Select NP_004729.1:p.Thr23=
ENST00000475243.6:c.69C>T MANE Select ENSP00000417175.1:p.Thr23=
NM_001195677.1:c.69C>T NP_001182606.1:p.Thr23=
NM_001195677.2:c.69C>T NP_001182606.1:p.Thr23=
NM_004738.4:c.69C>T , LRG_656t1:c.69C>T NP_004729.1:p.Thr23=
NR_036633.1:n.410C>T
NR_036633.2:n.300C>T
ENST00000265619.6:n.367C>T
ENST00000395802.7:c.69C>T ENSP00000379147.3:p.Thr23=
ENST00000475243.5:c.69C>T ENSP00000417175.1:p.Thr23=
ENST00000520497.1:c.69C>T ENSP00000430426.1:p.Thr23=
XR_001754433.2:n.318C>T