Canonical Allele Identifier: CA2617271127
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470873-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470873T>C , CM000674.2:g.6470873T>C GRCh38
NC_000012.11:g.6580039T>C , CM000674.1:g.6580039T>C GRCh37
NC_000012.10:g.6450300T>C NCBI36
NG_042188.1:g.5027A>G
NG_042188.2:g.5027A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-342A>G (VAMP1) ENSP00000355122.3:n.-342A>G
NM_001297438.1:c.-342A>G (VAMP1) NP_001284367.1:n.-342A>G
NM_014231.4:c.-342A>G (VAMP1) NP_055046.1:n.-342A>G
NM_016830.3:c.-342A>G (VAMP1) NP_058439.1:n.-342A>G
NM_199245.2:c.-342A>G (VAMP1) NP_954740.1:n.-342A>G
NR_123717.1:n.27A>G (VAMP1)
XR_001748777.2:n.2140T>C (TAPBPL)
XR_001748778.2:n.2137T>C (TAPBPL)