Canonical Allele Identifier: CA383558932

Gene: VAMP1 TAPBPL

Linked Data

• ClinVar Variation Id: 493108
• ClinVar RCV Id: RCV000585509
• dbSNP Id: rs1555130465
• MyVariant Identifiers: chr12:g.6575066G>T (hg19) ; chr12:g.6465900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6465900G>T , CM000674.2:g.6465900G>T	GRCh38
NC_000012.11:g.6575066G>T , CM000674.1:g.6575066G>T	GRCh37
NC_000012.10:g.6445327G>T	NCBI36
NG_042188.1:g.10000C>A
NG_042188.2:g.10000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.8:c.230C>A (VAMP1)	ENSP00000355122.3:p.Ser77Ter
ENST00000396308.4:c.230C>A (VAMP1) MANE Select	ENSP00000379602.3:p.Ser77Ter
ENST00000361716.7:c.230C>A (VAMP1)	ENSP00000355122.3:p.Ser77Ter
ENST00000396308.3:c.230C>A (VAMP1)	ENSP00000379602.3:p.Ser77Ter
ENST00000400911.7:c.230C>A (VAMP1)	ENSP00000383702.3:p.Ser77Ter
ENST00000535180.5:c.230C>A (VAMP1)	ENSP00000444181.1:p.Ser77Ter
ENST00000535927.5:n.249C>A (VAMP1)
ENST00000538970.5:n.149C>A (VAMP1)
ENST00000539047.1:n.376C>A (VAMP1)
ENST00000544432.5:n.186C>A (VAMP1)
ENST00000545700.5:n.1727G>T (TAPBPL)
NM_001297438.1:c.230C>A (VAMP1)	NP_001284367.1:p.Ser77Ter
NM_014231.4:c.230C>A (VAMP1)	NP_055046.1:p.Ser77Ter
NM_016830.3:c.230C>A (VAMP1)	NP_058439.1:p.Ser77Ter
NM_199245.2:c.230C>A (VAMP1)	NP_954740.1:p.Ser77Ter
NR_123717.1:n.471C>A (VAMP1)
XR_001748777.2:n.1679-1151G>T (TAPBPL)
XR_001748778.2:n.1679-1154G>T (TAPBPL)
NM_001297438.2:c.230C>A (VAMP1)	NP_001284367.1:p.Ser77Ter
NM_014231.5:c.230C>A (VAMP1) MANE Select	NP_055046.1:p.Ser77Ter
NM_016830.4:c.230C>A (VAMP1)	NP_058439.1:p.Ser77Ter
NM_199245.3:c.230C>A (VAMP1)	NP_954740.1:p.Ser77Ter
NR_123717.2:n.249C>A (VAMP1)