Canonical Allele Identifier: CA918811632

Gene: SMPD1

Linked Data

• dbSNP Id: rs550365194
• gnomAD v3: 11-6390700-C-CCTGGTGCTGGCG
• gnomAD v4: 11-6390700-C-CCTGGTGCTGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390705_6390716dup , CM000673.2:g.6390705_6390716dup	GRCh38
NC_000011.9:g.6411935_6411946dup , CM000673.1:g.6411935_6411946dup	GRCh37
NC_000011.8:g.6368511_6368522dup	NCBI36
NG_011780.1:g.5281_5292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.107_118dup MANE Select	ENSP00000340409.4:p.Leu39_Ala40insValLeuAlaLeu
ENST00000342245.8:c.107_118dup	ENSP00000340409.4:p.Leu39_Ala40insValLeuAlaLeu
ENST00000527275.5:c.107_118dup	ENSP00000435350.1:p.Leu39_Ala40insValLeuAlaLeu
ENST00000530395.1:c.-96+66_-96+77dup	ENSP00000431479.1:n.-96+66_-96+77dup
ENST00000531303.5:c.107_118dup	ENSP00000432625.1:p.Leu39_Ala40insValLeuAlaLeu
ENST00000533123.5:c.107_118dup	ENSP00000435950.1:p.Leu39_Ala40insValLeuAlaLeu
ENST00000533196.1:n.266_277dup
ENST00000534405.5:c.107_118dup	ENSP00000434353.1:p.Leu39_Ala40insValLeuAlaLeu
NM_000543.4:c.107_118dup	NP_000534.3:p.Leu39_Ala40insValLeuAlaLeu
NM_001007593.2:c.107_118dup	NP_001007594.2:p.Leu39_Ala40insValLeuAlaLeu
XM_005253075.3:c.107_118dup	XP_005253132.1:p.Leu39_Ala40insValLeuAlaLeu
XM_011520303.1:c.107_118dup	XP_011518605.1:p.Leu39_Ala40insValLeuAlaLeu
XM_011520304.1:c.107_118dup	XP_011518606.1:p.Leu39_Ala40insValLeuAlaLeu
XR_930886.1:n.405_416dup
NM_001318087.1:c.107_118dup	NP_001305016.1:p.Leu39_Ala40insValLeuAlaLeu
NM_001318088.1:c.-855_-844dup	NP_001305017.1:n.-855_-844dup
NM_001365135.1:c.107_118dup	NP_001352064.1:p.Leu39_Ala40insValLeuAlaLeu
NR_027400.2:n.292_303dup
NR_134502.1:n.292_303dup
XM_011520304.2:c.107_118dup	XP_011518606.1:p.Leu39_Ala40insValLeuAlaLeu
XR_001747940.2:n.232_243dup
XR_002957158.1:n.232_243dup
NM_000543.5:c.107_118dup MANE Select	NP_000534.3:p.Leu39_Ala40insValLeuAlaLeu
NM_001007593.3:c.107_118dup	NP_001007594.2:p.Leu39_Ala40insValLeuAlaLeu
NM_001318087.2:c.107_118dup	NP_001305016.1:p.Leu39_Ala40insValLeuAlaLeu
NM_001318088.2:c.-855_-844dup	NP_001305017.1:n.-855_-844dup
NM_001365135.2:c.107_118dup	NP_001352064.1:p.Leu39_Ala40insValLeuAlaLeu
NR_027400.3:n.232_243dup
NR_134502.2:n.232_243dup