Canonical Allele Identifier: CA2617271123
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470871-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470871C>A , CM000674.2:g.6470871C>A GRCh38
NC_000012.11:g.6580037C>A , CM000674.1:g.6580037C>A GRCh37
NC_000012.10:g.6450298C>A NCBI36
NG_042188.1:g.5029G>T
NG_042188.2:g.5029G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-340G>T (VAMP1) ENSP00000355122.3:n.-340G>T
NM_001297438.1:c.-340G>T (VAMP1) NP_001284367.1:n.-340G>T
NM_014231.4:c.-340G>T (VAMP1) NP_055046.1:n.-340G>T
NM_016830.3:c.-340G>T (VAMP1) NP_058439.1:n.-340G>T
NM_199245.2:c.-340G>T (VAMP1) NP_954740.1:n.-340G>T
NR_123717.1:n.29G>T (VAMP1)
XR_001748777.2:n.2138C>A (TAPBPL)
XR_001748778.2:n.2135C>A (TAPBPL)