Canonical Allele Identifier: CA2740093601

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2942619
• ClinVar RCV Id: RCV003807785

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391734_6391735del , CM000673.2:g.6391734_6391735del	GRCh38
NC_000011.9:g.6412964_6412965del , CM000673.1:g.6412964_6412965del	GRCh37
NC_000011.8:g.6369540_6369541del	NCBI36
NG_011780.1:g.6310_6311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.669_670del MANE Select	ENSP00000340409.4:p.Ala224ArgfsTer29
ENST00000342245.8:c.669_670del	ENSP00000340409.4:p.Ala224ArgfsTer29
ENST00000527275.5:c.666_667del	ENSP00000435350.1:p.Ala223ArgfsTer29
ENST00000530395.1:c.-95-56_-95-55del	ENSP00000431479.1:n.-95-56_-95-55del
ENST00000531303.5:c.438+231_438+232del	ENSP00000432625.1:n.438+231_438+232del
ENST00000533123.5:c.669_670del	ENSP00000435950.1:p.Ala224ArgfsTer29
ENST00000533196.1:n.375-272_375-271del
ENST00000534405.5:c.669_670del	ENSP00000434353.1:p.Ala224ArgfsTer29
NM_000543.4:c.669_670del	NP_000534.3:p.Ala224ArgfsTer29
NM_001007593.2:c.666_667del	NP_001007594.2:p.Ala223ArgfsTer29
XM_005253075.3:c.669_670del	XP_005253132.1:p.Ala224ArgfsTer29
XM_011520303.1:c.669_670del	XP_011518605.1:p.Ala224ArgfsTer29
XM_011520304.1:c.669_670del	XP_011518606.1:p.Ala224ArgfsTer29
XR_930886.1:n.967_968del
NM_001318087.1:c.669_670del	NP_001305016.1:p.Ala224ArgfsTer29
NM_001318088.1:c.-293_-292del	NP_001305017.1:n.-293_-292del
NM_001365135.1:c.669_670del	NP_001352064.1:p.Ala224ArgfsTer29
NR_027400.2:n.854_855del
NR_134502.1:n.623+231_623+232del
XM_011520304.2:c.669_670del	XP_011518606.1:p.Ala224ArgfsTer29
XR_001747940.2:n.794_795del
XR_002957158.1:n.794_795del
NM_000543.5:c.669_670del MANE Select	NP_000534.3:p.Ala224ArgfsTer29
NM_001007593.3:c.666_667del	NP_001007594.2:p.Ala223ArgfsTer29
NM_001318087.2:c.669_670del	NP_001305016.1:p.Ala224ArgfsTer29
NM_001318088.2:c.-293_-292del	NP_001305017.1:n.-293_-292del
NM_001365135.2:c.669_670del	NP_001352064.1:p.Ala224ArgfsTer29
NR_027400.3:n.794_795del
NR_134502.2:n.563+231_563+232del