Canonical Allele Identifier: CA2617271102
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470860-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470860C>G , CM000674.2:g.6470860C>G GRCh38
NC_000012.11:g.6580026C>G , CM000674.1:g.6580026C>G GRCh37
NC_000012.10:g.6450287C>G NCBI36
NG_042188.1:g.5040G>C
NG_042188.2:g.5040G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-329G>C (VAMP1) ENSP00000355122.3:n.-329G>C
NM_001297438.1:c.-329G>C (VAMP1) NP_001284367.1:n.-329G>C
NM_014231.4:c.-329G>C (VAMP1) NP_055046.1:n.-329G>C
NM_016830.3:c.-329G>C (VAMP1) NP_058439.1:n.-329G>C
NM_199245.2:c.-329G>C (VAMP1) NP_954740.1:n.-329G>C
NR_123717.1:n.40G>C (VAMP1)
XR_001748777.2:n.2127C>G (TAPBPL)
XR_001748778.2:n.2124C>G (TAPBPL)