Canonical Allele Identifier: CA5852477

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2047190
• ClinVar RCV Id: RCV002904117 ; RCV003481347
• dbSNP Id: rs1554933798
• ExAC: 11:6411930 C / CCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG
• gnomAD v2: 11-6411930-C-CCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG
• gnomAD v3: 11-6390700-C-CCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG
• gnomAD v4: 11-6390700-C-CCTGGTGCTGGCGCTGGCGCTGGCGCTGGCG
• MyVariant Identifiers: chr11:g.6411954_6411955insCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG (hg19) ; chr11:g.6390724_6390725insCTGGCGCTGGTGCTGGCGCTGGCGCTGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390705_6390734dup , CM000673.2:g.6390705_6390734dup	GRCh38
NC_000011.9:g.6411935_6411964dup , CM000673.1:g.6411935_6411964dup	GRCh37
NC_000011.8:g.6368511_6368540dup	NCBI36
NG_011780.1:g.5281_5310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.107_136dup MANE Select	ENSP00000340409.4:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000342245.8:c.107_136dup	ENSP00000340409.4:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000527275.5:c.107_136dup	ENSP00000435350.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000530395.1:c.-96+66_-96+95dup	ENSP00000431479.1:n.-96+66_-96+95dup
ENST00000531303.5:c.107_136dup	ENSP00000432625.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000533123.5:c.107_136dup	ENSP00000435950.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000533196.1:n.266_295dup
ENST00000534405.5:c.107_136dup	ENSP00000434353.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAla...
NM_000543.4:c.107_136dup	NP_000534.3:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu
NM_001007593.2:c.107_136dup	NP_001007594.2:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_005253075.3:c.107_136dup	XP_005253132.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_011520303.1:c.107_136dup	XP_011518605.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_011520304.1:c.107_136dup	XP_011518606.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XR_930886.1:n.405_434dup
NM_001318087.1:c.107_136dup	NP_001305016.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318088.1:c.-855_-826dup	NP_001305017.1:n.-855_-826dup
NM_001365135.1:c.107_136dup	NP_001352064.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NR_027400.2:n.292_321dup
NR_134502.1:n.292_321dup
XM_011520304.2:c.107_136dup	XP_011518606.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XR_001747940.2:n.232_261dup
XR_002957158.1:n.232_261dup
NM_000543.5:c.107_136dup MANE Select	NP_000534.3:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu
NM_001007593.3:c.107_136dup	NP_001007594.2:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318087.2:c.107_136dup	NP_001305016.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318088.2:c.-855_-826dup	NP_001305017.1:n.-855_-826dup
NM_001365135.2:c.107_136dup	NP_001352064.1:p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NR_027400.3:n.232_261dup
NR_134502.2:n.232_261dup