Canonical Allele Identifier: CA383559354

Gene: VAMP1 TAPBPL

Linked Data

• ClinVar Variation Id: 451278
• ClinVar RCV Id: RCV000519689
• dbSNP Id: rs1555130597
• gnomAD v3: 12-6466232-A-T
• gnomAD v4: 12-6466232-A-T
• MyVariant Identifiers: chr12:g.6575398A>T (hg19) ; chr12:g.6466232A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6466232A>T , CM000674.2:g.6466232A>T	GRCh38
NC_000012.11:g.6575398A>T , CM000674.1:g.6575398A>T	GRCh37
NC_000012.10:g.6445659A>T	NCBI36
NG_042188.1:g.9668T>A
NG_042188.2:g.9668T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361716.8:c.122T>A (VAMP1)	ENSP00000355122.3:p.Val41Glu
ENST00000396308.4:c.122T>A (VAMP1) MANE Select	ENSP00000379602.3:p.Val41Glu
ENST00000361716.7:c.122T>A (VAMP1)	ENSP00000355122.3:p.Val41Glu
ENST00000396308.3:c.122T>A (VAMP1)	ENSP00000379602.3:p.Val41Glu
ENST00000400911.7:c.122T>A (VAMP1)	ENSP00000383702.3:p.Val41Glu
ENST00000535180.5:c.122T>A (VAMP1)	ENSP00000444181.1:p.Val41Glu
ENST00000535927.5:n.149-232T>A (VAMP1)
ENST00000538970.5:n.41T>A (VAMP1)
ENST00000539047.1:n.268T>A (VAMP1)
ENST00000544432.5:n.86-232T>A (VAMP1)
ENST00000545700.5:n.2059A>T (TAPBPL)
NM_001297438.1:c.122T>A (VAMP1)	NP_001284367.1:p.Val41Glu
NM_014231.4:c.122T>A (VAMP1)	NP_055046.1:p.Val41Glu
NM_016830.3:c.122T>A (VAMP1)	NP_058439.1:p.Val41Glu
NM_199245.2:c.122T>A (VAMP1)	NP_954740.1:p.Val41Glu
NR_123717.1:n.371-232T>A (VAMP1)
XR_001748777.2:n.1679-819A>T (TAPBPL)
XR_001748778.2:n.1679-822A>T (TAPBPL)
NM_001297438.2:c.122T>A (VAMP1)	NP_001284367.1:p.Val41Glu
NM_014231.5:c.122T>A (VAMP1) MANE Select	NP_055046.1:p.Val41Glu
NM_016830.4:c.122T>A (VAMP1)	NP_058439.1:p.Val41Glu
NM_199245.3:c.122T>A (VAMP1)	NP_954740.1:p.Val41Glu
NR_123717.2:n.149-232T>A (VAMP1)