Canonical Allele Identifier: CA409442780

Gene: VAPB

Linked Data

• ClinVar Variation Id: 534269
• ClinVar RCV Id: RCV002254560
• dbSNP Id: rs1555813002
• MyVariant Identifiers: chr20:g.56993402C>T (hg19) ; chr20:g.58418346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58418346C>T , CM000682.2:g.58418346C>T	GRCh38
NC_000020.10:g.56993402C>T , CM000682.1:g.56993402C>T	GRCh37
NC_000020.9:g.56426808C>T	NCBI36
NG_008073.2:g.34158C>T , LRG_656:g.34158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.194C>T MANE Select	ENSP00000417175.1:p.Ala65Val
ENST00000265619.6:n.492C>T
ENST00000395802.7:c.194C>T	ENSP00000379147.3:p.Ala65Val
ENST00000475243.5:c.194C>T	ENSP00000417175.1:p.Ala65Val
ENST00000520497.1:c.194C>T	ENSP00000430426.1:p.Ala65Val
NM_001195677.1:c.194C>T	NP_001182606.1:p.Ala65Val
NM_004738.4:c.194C>T , LRG_656t1:c.194C>T	NP_004729.1:p.Ala65Val
NR_036633.1:n.535C>T
XR_001754433.2:n.443C>T
NM_001195677.2:c.194C>T	NP_001182606.1:p.Ala65Val
NM_004738.5:c.194C>T MANE Select	NP_004729.1:p.Ala65Val
NR_036633.2:n.425C>T