Canonical Allele Identifier: CA690907006

Gene: VAMP1 TAPBPL

Linked Data

• dbSNP Id: rs1400029324
• gnomAD v4: 12-6470884-T-A
• MyVariant Identifiers: chr12:g.6580050T>A (hg19) ; chr12:g.6470884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6470884T>A , CM000674.2:g.6470884T>A	GRCh38
NC_000012.11:g.6580050T>A , CM000674.1:g.6580050T>A	GRCh37
NC_000012.10:g.6450311T>A	NCBI36
NG_042188.1:g.5016A>T
NG_042188.2:g.5016A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.7:c.-353A>T (VAMP1)	ENSP00000355122.3:n.-353A>T
NM_001297438.1:c.-353A>T (VAMP1)	NP_001284367.1:n.-353A>T
NM_014231.4:c.-353A>T (VAMP1)	NP_055046.1:n.-353A>T
NM_016830.3:c.-353A>T (VAMP1)	NP_058439.1:n.-353A>T
NM_199245.2:c.-353A>T (VAMP1)	NP_954740.1:n.-353A>T
NR_123717.1:n.16A>T (VAMP1)
XR_001748777.2:n.2151T>A (TAPBPL)
XR_001748778.2:n.2148T>A (TAPBPL)