Canonical Allele Identifier: CA232341574
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6464744C>T , CM000674.2:g.6464744C>T GRCh38
NC_000012.11:g.6573910C>T , CM000674.1:g.6573910C>T GRCh37
NC_000012.10:g.6444171C>T NCBI36
NG_042188.1:g.11156G>A
NG_042188.2:g.11156G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014231.5:c.340+146G>A (VAMP1) MANE Select NP_055046.1:n.340+146G>A
ENST00000396308.4:c.340+146G>A (VAMP1) MANE Select ENSP00000379602.3:n.340+146G>A
NM_001297438.1:c.340+146G>A (VAMP1) NP_001284367.1:n.340+146G>A
NM_001297438.2:c.340+146G>A (VAMP1) NP_001284367.1:n.340+146G>A
NM_014231.4:c.340+146G>A (VAMP1) NP_055046.1:n.340+146G>A
NM_016830.3:c.340+146G>A (VAMP1) NP_058439.1:n.340+146G>A
NM_016830.4:c.340+146G>A (VAMP1) NP_058439.1:n.340+146G>A
NM_199245.2:c.*132G>A (VAMP1) NP_954740.1:n.*132G>A
NM_199245.3:c.*132G>A (VAMP1) NP_954740.1:n.*132G>A
NR_123717.1:n.581+146G>A (VAMP1)
NR_123717.2:n.359+146G>A (VAMP1)
ENST00000361716.7:c.*132G>A (VAMP1) ENSP00000355122.3:n.*132G>A
ENST00000361716.8:c.*132G>A (VAMP1) ENSP00000355122.3:n.*132G>A
ENST00000396308.3:c.340+146G>A (VAMP1) ENSP00000379602.3:n.340+146G>A
ENST00000400911.7:c.340+146G>A (VAMP1) ENSP00000383702.3:n.340+146G>A
ENST00000535180.5:c.340+146G>A (VAMP1) ENSP00000444181.1:n.340+146G>A
ENST00000535927.5:n.505G>A (VAMP1)
ENST00000538970.5:n.405G>A (VAMP1)
ENST00000544432.5:n.296+146G>A (VAMP1)
ENST00000545700.5:n.1702-1131C>T (TAPBPL)
XR_001748777.2:n.1679-2307C>T (TAPBPL)
XR_001748778.2:n.1679-2310C>T (TAPBPL)