Canonical Allele Identifier: CA690907013

Gene: VAMP1 TAPBPL

Linked Data

• dbSNP Id: rs1384172735
• gnomAD v4: 12-6470892-T-C
• MyVariant Identifiers: chr12:g.6580058T>C (hg19) ; chr12:g.6470892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6470892T>C , CM000674.2:g.6470892T>C	GRCh38
NC_000012.11:g.6580058T>C , CM000674.1:g.6580058T>C	GRCh37
NC_000012.10:g.6450319T>C	NCBI36
NG_042188.1:g.5008A>G
NG_042188.2:g.5008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.7:c.-361A>G (VAMP1)	ENSP00000355122.3:n.-361A>G
NM_001297438.1:c.-361A>G (VAMP1)	NP_001284367.1:n.-361A>G
NM_014231.4:c.-361A>G (VAMP1)	NP_055046.1:n.-361A>G
NM_016830.3:c.-361A>G (VAMP1)	NP_058439.1:n.-361A>G
NM_199245.2:c.-361A>G (VAMP1)	NP_954740.1:n.-361A>G
NR_123717.1:n.8A>G (VAMP1)
XR_001748777.2:n.2159T>C (TAPBPL)
XR_001748778.2:n.2156T>C (TAPBPL)