Canonical Allele Identifier: CA9924170
Community Standard Title: NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
Gene: VAPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58418222G>A , CM000682.2:g.58418222G>A GRCh38
NC_000020.10:g.56993278G>A , CM000682.1:g.56993278G>A GRCh37
NC_000020.9:g.56426684G>A NCBI36
NG_008073.2:g.34034G>A , LRG_656:g.34034G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004738.5:c.70G>A MANE Select NP_004729.1:p.Asp24Asn
ENST00000475243.6:c.70G>A MANE Select ENSP00000417175.1:p.Asp24Asn
NM_001195677.1:c.70G>A NP_001182606.1:p.Asp24Asn
NM_001195677.2:c.70G>A NP_001182606.1:p.Asp24Asn
NM_004738.4:c.70G>A , LRG_656t1:c.70G>A NP_004729.1:p.Asp24Asn
NR_036633.1:n.411G>A
NR_036633.2:n.301G>A
ENST00000265619.6:n.368G>A
ENST00000395802.7:c.70G>A ENSP00000379147.3:p.Asp24Asn
ENST00000475243.5:c.70G>A ENSP00000417175.1:p.Asp24Asn
ENST00000520497.1:c.70G>A ENSP00000430426.1:p.Asp24Asn
XR_001754433.2:n.319G>A