Canonical Allele Identifier: CA912972816

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414449dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393219dup , CM000673.2:g.6393219dup	GRCh38
NC_000011.9:g.6414449dup , CM000673.1:g.6414449dup	GRCh37
NC_000011.8:g.6371025dup	NCBI36
NG_011780.1:g.7795dup
NG_029615.1:g.31197dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1095dup MANE Select	ENSP00000340409.4:p.Gly366TrpfsTer25
ENST00000342245.8:c.1095dup	ENSP00000340409.4:p.Gly366TrpfsTer25
ENST00000526280.1:c.321-398dup
ENST00000527275.5:c.1092dup	ENSP00000435350.1:p.Gly365TrpfsTer25
ENST00000531303.5:c.442dup	ENSP00000432625.1:p.Trp148LeufsTer20
ENST00000533123.5:c.1092-398dup	ENSP00000435950.1:n.1092-398dup
ENST00000534405.5:c.1135dup	ENSP00000434353.1:p.Trp379LeufsTer20
NM_000543.4:c.1095dup	NP_000534.3:p.Gly366TrpfsTer25
NM_001007593.2:c.1092dup	NP_001007594.2:p.Gly365TrpfsTer25
XM_005253075.3:c.1095dup	XP_005253132.1:p.Gly366TrpfsTer25
XM_011520303.1:c.1132-398dup	XP_011518605.1:n.1132-398dup
XM_011520304.1:c.1132-398dup	XP_011518606.1:n.1132-398dup
XR_930886.1:n.1433dup
NM_001318087.1:c.1095dup	NP_001305016.1:p.Gly366TrpfsTer25
NM_001318088.1:c.174dup	NP_001305017.1:p.Gly59TrpfsTer25
NM_001365135.1:c.1132-398dup	NP_001352064.1:n.1132-398dup
NR_027400.2:n.1277-398dup
NR_134502.1:n.627dup
XM_011520304.2:c.1132-398dup	XP_011518606.1:n.1132-398dup
XR_001747940.2:n.1260dup
XR_002957158.1:n.1260dup
NM_000543.5:c.1095dup MANE Select	NP_000534.3:p.Gly366TrpfsTer25
NM_001007593.3:c.1092dup	NP_001007594.2:p.Gly365TrpfsTer25
NM_001318087.2:c.1095dup	NP_001305016.1:p.Gly366TrpfsTer25
NM_001318088.2:c.174dup	NP_001305017.1:p.Gly59TrpfsTer25
NM_001365135.2:c.1132-398dup	NP_001352064.1:n.1132-398dup
NR_027400.3:n.1217-398dup
NR_134502.2:n.567dup