Canonical Allele Identifier: CA10583055
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

ClinVar Variation Id: 240888
ClinVar RCV Id: RCV000128446 RCV000233592 RCV000255544
dbSNP Id: rs878854975
COSMIC: COSM4422111
MyVariant Identifiers: chr12:g.6574054A>C (hg19) chr12:g.6464888A>C (hg38)
PubMed: PMID:11774073 PMID:22958904
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6464888A>C , CM000674.2:g.6464888A>C GRCh38
NC_000012.11:g.6574054A>C , CM000674.1:g.6574054A>C GRCh37
NC_000012.10:g.6444315A>C NCBI36
NG_042188.1:g.11012T>G
NG_042188.2:g.11012T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361716.8:c.342T>G (VAMP1) ENSP00000355122.3:p.Ser114Arg
ENST00000396308.4:c.340+2T>G (VAMP1) MANE Select ENSP00000379602.3:n.340+2T>G
ENST00000361716.7:c.342T>G (VAMP1) ENSP00000355122.3:p.Ser114Arg
ENST00000396308.3:c.340+2T>G (VAMP1) ENSP00000379602.3:n.340+2T>G
ENST00000400911.7:c.340+2T>G (VAMP1) ENSP00000383702.3:n.340+2T>G
ENST00000535180.5:c.340+2T>G (VAMP1) ENSP00000444181.1:n.340+2T>G
ENST00000535927.5:n.361T>G (VAMP1)
ENST00000538970.5:n.261T>G (VAMP1)
ENST00000544432.5:n.296+2T>G (VAMP1)
ENST00000545700.5:n.1702-987A>C (TAPBPL)
NM_001297438.1:c.340+2T>G (VAMP1) NP_001284367.1:n.340+2T>G
NM_014231.4:c.340+2T>G (VAMP1) NP_055046.1:n.340+2T>G
NM_016830.3:c.340+2T>G (VAMP1) NP_058439.1:n.340+2T>G
NM_199245.2:c.342T>G (VAMP1) NP_954740.1:p.Ser114Arg
NR_123717.1:n.581+2T>G (VAMP1)
XR_001748777.2:n.1679-2163A>C (TAPBPL)
XR_001748778.2:n.1679-2166A>C (TAPBPL)
NM_001297438.2:c.340+2T>G (VAMP1) NP_001284367.1:n.340+2T>G
NM_014231.5:c.340+2T>G (VAMP1) MANE Select NP_055046.1:n.340+2T>G
NM_016830.4:c.340+2T>G (VAMP1) NP_058439.1:n.340+2T>G
NM_199245.3:c.342T>G (VAMP1) NP_954740.1:p.Ser114Arg
NR_123717.2:n.359+2T>G (VAMP1)
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