Canonical Allele Identifier: CA5852637

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 553306
• ClinVar RCV Id: RCV000668721 ; RCV001310952
• dbSNP Id: rs748165078
• ExAC: 11:6412870 G / GC
• gnomAD v2: 11-6412870-G-GC
• gnomAD v3: 11-6391640-G-GC
• gnomAD v4: 11-6391640-G-GC
• MyVariant Identifiers: chr11:g.6412871_6412872insC (hg19) ; chr11:g.6412870_6412871insC (hg19) ; chr11:g.6391646dup (hg38) ; chr11:g.6391640_6391641insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391646dup , CM000673.2:g.6391646dup	GRCh38
NC_000011.9:g.6412876dup , CM000673.1:g.6412876dup	GRCh37
NC_000011.8:g.6369452dup	NCBI36
NG_011780.1:g.6222dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.581dup MANE Select	ENSP00000340409.4:p.Ala195SerfsTer14
ENST00000342245.8:c.581dup	ENSP00000340409.4:p.Ala195SerfsTer14
ENST00000527275.5:c.578dup	ENSP00000435350.1:p.Ala194SerfsTer14
ENST00000530395.1:c.-95-144dup	ENSP00000431479.1:n.-95-144dup
ENST00000531303.5:c.438+143dup	ENSP00000432625.1:n.438+143dup
ENST00000533123.5:c.581dup	ENSP00000435950.1:p.Ala195SerfsTer14
ENST00000533196.1:n.375-360dup
ENST00000534405.5:c.581dup	ENSP00000434353.1:p.Ala195SerfsTer14
NM_000543.4:c.581dup	NP_000534.3:p.Ala195SerfsTer14
NM_001007593.2:c.578dup	NP_001007594.2:p.Ala194SerfsTer14
XM_005253075.3:c.581dup	XP_005253132.1:p.Ala195SerfsTer14
XM_011520303.1:c.581dup	XP_011518605.1:p.Ala195SerfsTer14
XM_011520304.1:c.581dup	XP_011518606.1:p.Ala195SerfsTer14
XR_930886.1:n.879dup
NM_001318087.1:c.581dup	NP_001305016.1:p.Ala195SerfsTer14
NM_001318088.1:c.-381dup	NP_001305017.1:n.-381dup
NM_001365135.1:c.581dup	NP_001352064.1:p.Ala195SerfsTer14
NR_027400.2:n.766dup
NR_134502.1:n.623+143dup
XM_011520304.2:c.581dup	XP_011518606.1:p.Ala195SerfsTer14
XR_001747940.2:n.706dup
XR_002957158.1:n.706dup
NM_000543.5:c.581dup MANE Select	NP_000534.3:p.Ala195SerfsTer14
NM_001007593.3:c.578dup	NP_001007594.2:p.Ala194SerfsTer14
NM_001318087.2:c.581dup	NP_001305016.1:p.Ala195SerfsTer14
NM_001318088.2:c.-381dup	NP_001305017.1:n.-381dup
NM_001365135.2:c.581dup	NP_001352064.1:p.Ala195SerfsTer14
NR_027400.3:n.706dup
NR_134502.2:n.563+143dup