Canonical Allele Identifier: CA2573147174

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1420134
• ClinVar RCV Id: RCV001943470
• dbSNP Id: rs2134011809

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391885del , CM000673.2:g.6391885del	GRCh38
NC_000011.9:g.6413115del , CM000673.1:g.6413115del	GRCh37
NC_000011.8:g.6369691del	NCBI36
NG_011780.1:g.6461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.820del MANE Select	ENSP00000340409.4:p.Met274TrpfsTer25
ENST00000342245.8:c.820del	ENSP00000340409.4:p.Met274TrpfsTer25
ENST00000526280.1:c.9del
ENST00000527275.5:c.817del	ENSP00000435350.1:p.Met273TrpfsTer25
ENST00000530395.1:c.1del	ENSP00000431479.1:p.Met1TrpfsTer25
ENST00000531303.5:c.438+382del	ENSP00000432625.1:n.438+382del
ENST00000533123.5:c.820del	ENSP00000435950.1:p.Met274TrpfsTer25
ENST00000533196.1:n.375-121del
ENST00000534405.5:c.820del	ENSP00000434353.1:p.Met274TrpfsTer25
NM_000543.4:c.820del	NP_000534.3:p.Met274TrpfsTer25
NM_001007593.2:c.817del	NP_001007594.2:p.Met273TrpfsTer25
XM_005253075.3:c.820del	XP_005253132.1:p.Met274TrpfsTer25
XM_011520303.1:c.820del	XP_011518605.1:p.Met274TrpfsTer25
XM_011520304.1:c.820del	XP_011518606.1:p.Met274TrpfsTer25
XR_930886.1:n.1118del
NM_001318087.1:c.820del	NP_001305016.1:p.Met274TrpfsTer25
NM_001318088.1:c.-142del	NP_001305017.1:n.-142del
NM_001365135.1:c.820del	NP_001352064.1:p.Met274TrpfsTer25
NR_027400.2:n.1005del
NR_134502.1:n.623+382del
XM_011520304.2:c.820del	XP_011518606.1:p.Met274TrpfsTer25
XR_001747940.2:n.945del
XR_002957158.1:n.945del
NM_000543.5:c.820del MANE Select	NP_000534.3:p.Met274TrpfsTer25
NM_001007593.3:c.817del	NP_001007594.2:p.Met273TrpfsTer25
NM_001318087.2:c.820del	NP_001305016.1:p.Met274TrpfsTer25
NM_001318088.2:c.-142del	NP_001305017.1:n.-142del
NM_001365135.2:c.820del	NP_001352064.1:p.Met274TrpfsTer25
NR_027400.3:n.945del
NR_134502.2:n.563+382del