Canonical Allele Identifier: CA2591016472

Gene: VAMP1 TAPBPL

Linked Data

• dbSNP Id: rs2137018487
• gnomAD v3: 12-6470869-T-C
• gnomAD v4: 12-6470869-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6470869T>C , CM000674.2:g.6470869T>C	GRCh38
NC_000012.11:g.6580035T>C , CM000674.1:g.6580035T>C	GRCh37
NC_000012.10:g.6450296T>C	NCBI36
NG_042188.1:g.5031A>G
NG_042188.2:g.5031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.7:c.-338A>G (VAMP1)	ENSP00000355122.3:n.-338A>G
NM_001297438.1:c.-338A>G (VAMP1)	NP_001284367.1:n.-338A>G
NM_014231.4:c.-338A>G (VAMP1)	NP_055046.1:n.-338A>G
NM_016830.3:c.-338A>G (VAMP1)	NP_058439.1:n.-338A>G
NM_199245.2:c.-338A>G (VAMP1)	NP_954740.1:n.-338A>G
NR_123717.1:n.31A>G (VAMP1)
XR_001748777.2:n.2136T>C (TAPBPL)
XR_001748778.2:n.2133T>C (TAPBPL)