Canonical Allele Identifier: CA232348380
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs924387029
gnomAD v2: 12-6580060-G-A
gnomAD v3: 12-6470894-G-A
gnomAD v4: 12-6470894-G-A
MyVariant Identifiers: chr12:g.6580060G>A (hg19) chr12:g.6470894G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470894G>A , CM000674.2:g.6470894G>A GRCh38
NC_000012.11:g.6580060G>A , CM000674.1:g.6580060G>A GRCh37
NC_000012.10:g.6450321G>A NCBI36
NG_042188.1:g.5006C>T
NG_042188.2:g.5006C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-363C>T (VAMP1) ENSP00000355122.3:n.-363C>T
NM_001297438.1:c.-363C>T (VAMP1) NP_001284367.1:n.-363C>T
NM_014231.4:c.-363C>T (VAMP1) NP_055046.1:n.-363C>T
NM_016830.3:c.-363C>T (VAMP1) NP_058439.1:n.-363C>T
NM_199245.2:c.-363C>T (VAMP1) NP_954740.1:n.-363C>T
NR_123717.1:n.6C>T (VAMP1)
XR_001748777.2:n.2161G>A (TAPBPL)
XR_001748778.2:n.2158G>A (TAPBPL)
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