Canonical Allele Identifier: CA2499221116

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1173982
• ClinVar RCV Id: RCV001527437
• dbSNP Id: rs2134009550

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391569dup , CM000673.2:g.6391569dup	GRCh38
NC_000011.9:g.6412799dup , CM000673.1:g.6412799dup	GRCh37
NC_000011.8:g.6369375dup	NCBI36
NG_011780.1:g.6145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.504dup MANE Select	ENSP00000340409.4:p.His169AlafsTer24
ENST00000342245.8:c.504dup	ENSP00000340409.4:p.His169AlafsTer24
ENST00000527275.5:c.501dup	ENSP00000435350.1:p.His168AlafsTer24
ENST00000530395.1:c.-95-221dup	ENSP00000431479.1:n.-95-221dup
ENST00000531303.5:c.438+66dup	ENSP00000432625.1:n.438+66dup
ENST00000533123.5:c.504dup	ENSP00000435950.1:p.His169AlafsTer24
ENST00000533196.1:n.375-437dup
ENST00000534405.5:c.504dup	ENSP00000434353.1:p.His169AlafsTer24
NM_000543.4:c.504dup	NP_000534.3:p.His169AlafsTer24
NM_001007593.2:c.501dup	NP_001007594.2:p.His168AlafsTer24
XM_005253075.3:c.504dup	XP_005253132.1:p.His169AlafsTer24
XM_011520303.1:c.504dup	XP_011518605.1:p.His169AlafsTer24
XM_011520304.1:c.504dup	XP_011518606.1:p.His169AlafsTer24
XR_930886.1:n.802dup
NM_001318087.1:c.504dup	NP_001305016.1:p.His169AlafsTer24
NM_001318088.1:c.-458dup	NP_001305017.1:n.-458dup
NM_001365135.1:c.504dup	NP_001352064.1:p.His169AlafsTer24
NR_027400.2:n.689dup
NR_134502.1:n.623+66dup
XM_011520304.2:c.504dup	XP_011518606.1:p.His169AlafsTer24
XR_001747940.2:n.629dup
XR_002957158.1:n.629dup
NM_000543.5:c.504dup MANE Select	NP_000534.3:p.His169AlafsTer24
NM_001007593.3:c.501dup	NP_001007594.2:p.His168AlafsTer24
NM_001318087.2:c.504dup	NP_001305016.1:p.His169AlafsTer24
NM_001318088.2:c.-458dup	NP_001305017.1:n.-458dup
NM_001365135.2:c.504dup	NP_001352064.1:p.His169AlafsTer24
NR_027400.3:n.629dup
NR_134502.2:n.563+66dup