Canonical Allele Identifier: CA409442392

Gene: VAPB

Linked Data

• ClinVar Variation Id: 534272
• ClinVar RCV Id: RCV002254563
• dbSNP Id: rs1456089445
• gnomAD v2: 20-56993312-C-T
• gnomAD v3: 20-58418256-C-T
• gnomAD v4: 20-58418256-C-T
• MyVariant Identifiers: chr20:g.56993312C>T (hg19) ; chr20:g.58418256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58418256C>T , CM000682.2:g.58418256C>T	GRCh38
NC_000020.10:g.56993312C>T , CM000682.1:g.56993312C>T	GRCh37
NC_000020.9:g.56426718C>T	NCBI36
NG_008073.2:g.34068C>T , LRG_656:g.34068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.104C>T MANE Select	ENSP00000417175.1:p.Pro35Leu
ENST00000265619.6:n.402C>T
ENST00000395802.7:c.104C>T	ENSP00000379147.3:p.Pro35Leu
ENST00000475243.5:c.104C>T	ENSP00000417175.1:p.Pro35Leu
ENST00000520497.1:c.104C>T	ENSP00000430426.1:p.Pro35Leu
NM_001195677.1:c.104C>T	NP_001182606.1:p.Pro35Leu
NM_004738.4:c.104C>T , LRG_656t1:c.104C>T	NP_004729.1:p.Pro35Leu
NR_036633.1:n.445C>T
XR_001754433.2:n.353C>T
NM_001195677.2:c.104C>T	NP_001182606.1:p.Pro35Leu
NM_004738.5:c.104C>T MANE Select	NP_004729.1:p.Pro35Leu
NR_036633.2:n.335C>T