Canonical Allele Identifier: CA2014090579

Gene: VAMP1 TAPBPL

Linked Data

• dbSNP Id: rs1592153993
• gnomAD v3: 12-6470887-G-C
• gnomAD v4: 12-6470887-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6470887G>C , CM000674.2:g.6470887G>C	GRCh38
NC_000012.11:g.6580053G>C , CM000674.1:g.6580053G>C	GRCh37
NC_000012.10:g.6450314G>C	NCBI36
NG_042188.1:g.5013C>G
NG_042188.2:g.5013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.7:c.-356C>G (VAMP1)	ENSP00000355122.3:n.-356C>G
NM_001297438.1:c.-356C>G (VAMP1)	NP_001284367.1:n.-356C>G
NM_014231.4:c.-356C>G (VAMP1)	NP_055046.1:n.-356C>G
NM_016830.3:c.-356C>G (VAMP1)	NP_058439.1:n.-356C>G
NM_199245.2:c.-356C>G (VAMP1)	NP_954740.1:n.-356C>G
NR_123717.1:n.13C>G (VAMP1)
XR_001748777.2:n.2154G>C (TAPBPL)
XR_001748778.2:n.2151G>C (TAPBPL)