Canonical Allele Identifier: CA2617271183
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470893-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470893A>G , CM000674.2:g.6470893A>G GRCh38
NC_000012.11:g.6580059A>G , CM000674.1:g.6580059A>G GRCh37
NC_000012.10:g.6450320A>G NCBI36
NG_042188.1:g.5007T>C
NG_042188.2:g.5007T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-362T>C (VAMP1) ENSP00000355122.3:n.-362T>C
NM_001297438.1:c.-362T>C (VAMP1) NP_001284367.1:n.-362T>C
NM_014231.4:c.-362T>C (VAMP1) NP_055046.1:n.-362T>C
NM_016830.3:c.-362T>C (VAMP1) NP_058439.1:n.-362T>C
NM_199245.2:c.-362T>C (VAMP1) NP_954740.1:n.-362T>C
NR_123717.1:n.7T>C (VAMP1)
XR_001748777.2:n.2160A>G (TAPBPL)
XR_001748778.2:n.2157A>G (TAPBPL)