Canonical Allele Identifier: CA2695201072

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2679028
• ClinVar RCV Id: RCV003474042

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391932del , CM000673.2:g.6391932del	GRCh38
NC_000011.9:g.6413162del , CM000673.1:g.6413162del	GRCh37
NC_000011.8:g.6369738del	NCBI36
NG_011780.1:g.6508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.867del MANE Select	ENSP00000340409.4:p.Thr290LeufsTer9
ENST00000342245.8:c.867del	ENSP00000340409.4:p.Thr290LeufsTer9
ENST00000526280.1:c.56del
ENST00000527275.5:c.864del	ENSP00000435350.1:p.Thr289LeufsTer9
ENST00000530395.1:c.48del	ENSP00000431479.1:p.Thr17LeufsTer9
ENST00000531303.5:c.438+429del	ENSP00000432625.1:n.438+429del
ENST00000533123.5:c.867del	ENSP00000435950.1:p.Thr290LeufsTer9
ENST00000533196.1:n.375-74del
ENST00000534405.5:c.867del	ENSP00000434353.1:p.Thr290LeufsTer9
NM_000543.4:c.867del	NP_000534.3:p.Thr290LeufsTer9
NM_001007593.2:c.864del	NP_001007594.2:p.Thr289LeufsTer9
XM_005253075.3:c.867del	XP_005253132.1:p.Thr290LeufsTer9
XM_011520303.1:c.867del	XP_011518605.1:p.Thr290LeufsTer9
XM_011520304.1:c.867del	XP_011518606.1:p.Thr290LeufsTer9
XR_930886.1:n.1165del
NM_001318087.1:c.867del	NP_001305016.1:p.Thr290LeufsTer9
NM_001318088.1:c.-95del	NP_001305017.1:n.-95del
NM_001365135.1:c.867del	NP_001352064.1:p.Thr290LeufsTer9
NR_027400.2:n.1052del
NR_134502.1:n.623+429del
XM_011520304.2:c.867del	XP_011518606.1:p.Thr290LeufsTer9
XR_001747940.2:n.992del
XR_002957158.1:n.992del
NM_000543.5:c.867del MANE Select	NP_000534.3:p.Thr290LeufsTer9
NM_001007593.3:c.864del	NP_001007594.2:p.Thr289LeufsTer9
NM_001318087.2:c.867del	NP_001305016.1:p.Thr290LeufsTer9
NM_001318088.2:c.-95del	NP_001305017.1:n.-95del
NM_001365135.2:c.867del	NP_001352064.1:p.Thr290LeufsTer9
NR_027400.3:n.992del
NR_134502.2:n.563+429del