Canonical Allele Identifier: CA232348314

Gene: VAMP1 TAPBPL

Linked Data

• dbSNP Id: rs948414753
• gnomAD v4: 12-6470882-A-G
• MyVariant Identifiers: chr12:g.6580048A>G (hg19) ; chr12:g.6470882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6470882A>G , CM000674.2:g.6470882A>G	GRCh38
NC_000012.11:g.6580048A>G , CM000674.1:g.6580048A>G	GRCh37
NC_000012.10:g.6450309A>G	NCBI36
NG_042188.1:g.5018T>C
NG_042188.2:g.5018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.7:c.-351T>C (VAMP1)	ENSP00000355122.3:n.-351T>C
NM_001297438.1:c.-351T>C (VAMP1)	NP_001284367.1:n.-351T>C
NM_014231.4:c.-351T>C (VAMP1)	NP_055046.1:n.-351T>C
NM_016830.3:c.-351T>C (VAMP1)	NP_058439.1:n.-351T>C
NM_199245.2:c.-351T>C (VAMP1)	NP_954740.1:n.-351T>C
NR_123717.1:n.18T>C (VAMP1)
XR_001748777.2:n.2149A>G (TAPBPL)
XR_001748778.2:n.2146A>G (TAPBPL)