Canonical Allele Identifier: CA232348370

Gene: VAMP1 TAPBPL

Linked Data

• dbSNP Id: rs977126647
• gnomAD v2: 12-6580052-C-T
• gnomAD v3: 12-6470886-C-T
• gnomAD v4: 12-6470886-C-T
• MyVariant Identifiers: chr12:g.6580052C>T (hg19) ; chr12:g.6470886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6470886C>T , CM000674.2:g.6470886C>T	GRCh38
NC_000012.11:g.6580052C>T , CM000674.1:g.6580052C>T	GRCh37
NC_000012.10:g.6450313C>T	NCBI36
NG_042188.1:g.5014G>A
NG_042188.2:g.5014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.7:c.-355G>A (VAMP1)	ENSP00000355122.3:n.-355G>A
NM_001297438.1:c.-355G>A (VAMP1)	NP_001284367.1:n.-355G>A
NM_014231.4:c.-355G>A (VAMP1)	NP_055046.1:n.-355G>A
NM_016830.3:c.-355G>A (VAMP1)	NP_058439.1:n.-355G>A
NM_199245.2:c.-355G>A (VAMP1)	NP_954740.1:n.-355G>A
NR_123717.1:n.14G>A (VAMP1)
XR_001748777.2:n.2153C>T (TAPBPL)
XR_001748778.2:n.2150C>T (TAPBPL)