Canonical Allele Identifier: CA316295617
Community Standard Title: NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58418245G>T , CM000682.2:g.58418245G>T GRCh38
NC_000020.10:g.56993301G>T , CM000682.1:g.56993301G>T GRCh37
NC_000020.9:g.56426707G>T NCBI36
NG_008073.2:g.34057G>T , LRG_656:g.34057G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.93G>T MANE Select NP_004729.1:p.Lys31Asn
ENST00000475243.6:c.93G>T MANE Select ENSP00000417175.1:p.Lys31Asn
NM_001195677.1:c.93G>T NP_001182606.1:p.Lys31Asn
NM_001195677.2:c.93G>T NP_001182606.1:p.Lys31Asn
NM_004738.4:c.93G>T , LRG_656t1:c.93G>T NP_004729.1:p.Lys31Asn
NR_036633.1:n.434G>T
NR_036633.2:n.324G>T
ENST00000265619.6:n.391G>T
ENST00000395802.7:c.93G>T ENSP00000379147.3:p.Lys31Asn
ENST00000475243.5:c.93G>T ENSP00000417175.1:p.Lys31Asn
ENST00000520497.1:c.93G>T ENSP00000430426.1:p.Lys31Asn
XR_001754433.2:n.342G>T