Canonical Allele Identifier: CA2740093611

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2941494
• ClinVar RCV Id: RCV003795196

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393624_6393625del , CM000673.2:g.6393624_6393625del	GRCh38
NC_000011.9:g.6414854_6414855del , CM000673.1:g.6414854_6414855del	GRCh37
NC_000011.8:g.6371430_6371431del	NCBI36
NG_011780.1:g.8200_8201del
NG_029615.1:g.30793_30794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1271_1272del MANE Select	ENSP00000340409.4:p.Ile424AsnfsTer25
ENST00000342245.8:c.1271_1272del	ENSP00000340409.4:p.Ile424AsnfsTer25
ENST00000526280.1:c.328_329del
ENST00000527275.5:c.1268_1269del	ENSP00000435350.1:p.Ile423AsnfsTer25
ENST00000531303.5:c.*102_*103del	ENSP00000432625.1:n.*102_*103del
ENST00000531336.1:n.103_104del
ENST00000532367.1:n.107_108del
ENST00000533123.5:c.1099_1100del	ENSP00000435950.1:p.Ter367IleextTer?
ENST00000534405.5:c.*102_*103del	ENSP00000434353.1:n.*102_*103del
NM_000543.4:c.1271_1272del	NP_000534.3:p.Ile424AsnfsTer25
NM_001007593.2:c.1268_1269del	NP_001007594.2:p.Ile423AsnfsTer25
XM_005253075.3:c.1271_1272del	XP_005253132.1:p.Ile424AsnfsTer25
XM_011520303.1:c.1139_1140del	XP_011518605.1:p.Ile380AsnfsTer25
XM_011520304.1:c.1139_1140del	XP_011518606.1:p.Ile380AsnfsTer25
XR_930886.1:n.1609_1610del
NM_001318087.1:c.1271_1272del	NP_001305016.1:p.Ile424AsnfsTer25
NM_001318088.1:c.350_351del	NP_001305017.1:p.Ile117AsnfsTer25
NM_001365135.1:c.1139_1140del	NP_001352064.1:p.Ile380AsnfsTer25
NR_027400.2:n.1284_1285del
NR_134502.1:n.803_804del
XM_011520304.2:c.1139_1140del	XP_011518606.1:p.Ile380AsnfsTer25
XR_001747940.2:n.1436_1437del
XR_002957158.1:n.1436_1437del
NM_000543.5:c.1271_1272del MANE Select	NP_000534.3:p.Ile424AsnfsTer25
NM_001007593.3:c.1268_1269del	NP_001007594.2:p.Ile423AsnfsTer25
NM_001318087.2:c.1271_1272del	NP_001305016.1:p.Ile424AsnfsTer25
NM_001318088.2:c.350_351del	NP_001305017.1:p.Ile117AsnfsTer25
NM_001365135.2:c.1139_1140del	NP_001352064.1:p.Ile380AsnfsTer25
NR_027400.3:n.1224_1225del
NR_134502.2:n.743_744del