Canonical Allele Identifier: CA1139661804

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 992677
• ClinVar RCV Id: RCV001281393
• dbSNP Id: rs1847871015

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390797dup , CM000673.2:g.6390797dup	GRCh38
NC_000011.9:g.6412027dup , CM000673.1:g.6412027dup	GRCh37
NC_000011.8:g.6368603dup	NCBI36
NG_011780.1:g.5373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.199dup MANE Select	ENSP00000340409.4:p.Gln67ProfsTer?
ENST00000342245.8:c.199dup	ENSP00000340409.4:p.Gln67ProfsTer?
ENST00000527275.5:c.199dup	ENSP00000435350.1:p.Gln67ProfsTer?
ENST00000530395.1:c.-96+158dup	ENSP00000431479.1:n.-96+158dup
ENST00000531303.5:c.199dup	ENSP00000432625.1:p.Gln67ProfsTer?
ENST00000533123.5:c.199dup	ENSP00000435950.1:p.Gln67ProfsTer?
ENST00000533196.1:n.358dup
ENST00000534405.5:c.199dup	ENSP00000434353.1:p.Gln67ProfsTer?
NM_000543.4:c.199dup	NP_000534.3:p.Gln67ProfsTer?
NM_001007593.2:c.199dup	NP_001007594.2:p.Gln67ProfsTer?
XM_005253075.3:c.199dup	XP_005253132.1:p.Gln67ProfsTer?
XM_011520303.1:c.199dup	XP_011518605.1:p.Gln67ProfsTer?
XM_011520304.1:c.199dup	XP_011518606.1:p.Gln67ProfsTer?
XR_930886.1:n.497dup
NM_001318087.1:c.199dup	NP_001305016.1:p.Gln67ProfsTer?
NM_001318088.1:c.-763dup	NP_001305017.1:n.-763dup
NM_001365135.1:c.199dup	NP_001352064.1:p.Gln67ProfsTer?
NR_027400.2:n.384dup
NR_134502.1:n.384dup
XM_011520304.2:c.199dup	XP_011518606.1:p.Gln67ProfsTer?
XR_001747940.2:n.324dup
XR_002957158.1:n.324dup
NM_000543.5:c.199dup MANE Select	NP_000534.3:p.Gln67ProfsTer?
NM_001007593.3:c.199dup	NP_001007594.2:p.Gln67ProfsTer?
NM_001318087.2:c.199dup	NP_001305016.1:p.Gln67ProfsTer?
NM_001318088.2:c.-763dup	NP_001305017.1:n.-763dup
NM_001365135.2:c.199dup	NP_001352064.1:p.Gln67ProfsTer?
NR_027400.3:n.324dup
NR_134502.2:n.324dup