Canonical Allele Identifier: CA2617271345
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470949-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470949T>G , CM000674.2:g.6470949T>G GRCh38
NC_000012.11:g.6580115T>G , CM000674.1:g.6580115T>G GRCh37
NC_000012.10:g.6450376T>G NCBI36
NG_042188.1:g.4951A>C
NG_042188.2:g.4951A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-418A>C (VAMP1) ENSP00000355122.3:n.-418A>C
XR_001748777.2:n.2216T>G (TAPBPL)
XR_001748778.2:n.2213T>G (TAPBPL)
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