Canonical Allele Identifier: CA217299544

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 813477
• ClinVar RCV Id: RCV001004579 ; RCV001389951
• dbSNP Id: rs1018556947
• gnomAD v3: 11-6391827-G-GC
• gnomAD v4: 11-6391827-G-GC
• MyVariant Identifiers: chr11:g.6413057_6413058insC (hg19) ; chr11:g.6391827_6391828insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391831dup , CM000673.2:g.6391831dup	GRCh38
NC_000011.9:g.6413061dup , CM000673.1:g.6413061dup	GRCh37
NC_000011.8:g.6369637dup	NCBI36
NG_011780.1:g.6407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.766dup MANE Select	ENSP00000340409.4:p.Leu256ProfsTer18
ENST00000342245.8:c.766dup	ENSP00000340409.4:p.Leu256ProfsTer18
ENST00000527275.5:c.763dup	ENSP00000435350.1:p.Leu255ProfsTer18
ENST00000530395.1:c.-54dup	ENSP00000431479.1:n.-54dup
ENST00000531303.5:c.438+328dup	ENSP00000432625.1:n.438+328dup
ENST00000533123.5:c.766dup	ENSP00000435950.1:p.Leu256ProfsTer18
ENST00000533196.1:n.375-175dup
ENST00000534405.5:c.766dup	ENSP00000434353.1:p.Leu256ProfsTer18
NM_000543.4:c.766dup	NP_000534.3:p.Leu256ProfsTer18
NM_001007593.2:c.763dup	NP_001007594.2:p.Leu255ProfsTer18
XM_005253075.3:c.766dup	XP_005253132.1:p.Leu256ProfsTer18
XM_011520303.1:c.766dup	XP_011518605.1:p.Leu256ProfsTer18
XM_011520304.1:c.766dup	XP_011518606.1:p.Leu256ProfsTer18
XR_930886.1:n.1064dup
NM_001318087.1:c.766dup	NP_001305016.1:p.Leu256ProfsTer18
NM_001318088.1:c.-196dup	NP_001305017.1:n.-196dup
NM_001365135.1:c.766dup	NP_001352064.1:p.Leu256ProfsTer18
NR_027400.2:n.951dup
NR_134502.1:n.623+328dup
XM_011520304.2:c.766dup	XP_011518606.1:p.Leu256ProfsTer18
XR_001747940.2:n.891dup
XR_002957158.1:n.891dup
NM_000543.5:c.766dup MANE Select	NP_000534.3:p.Leu256ProfsTer18
NM_001007593.3:c.763dup	NP_001007594.2:p.Leu255ProfsTer18
NM_001318087.2:c.766dup	NP_001305016.1:p.Leu256ProfsTer18
NM_001318088.2:c.-196dup	NP_001305017.1:n.-196dup
NM_001365135.2:c.766dup	NP_001352064.1:p.Leu256ProfsTer18
NR_027400.3:n.891dup
NR_134502.2:n.563+328dup