Canonical Allele Identifier: CA934768312

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847978334
• gnomAD v3: 11-6392505-T-TC
• gnomAD v4: 11-6392505-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392505_6392506insC , CM000673.2:g.6392505_6392506insC	GRCh38
NC_000011.9:g.6413735_6413736insC , CM000673.1:g.6413735_6413736insC	GRCh37
NC_000011.8:g.6370311_6370312insC	NCBI36
NG_011780.1:g.7081_7082insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+349_1091+350insC MANE Select	ENSP00000340409.4:n.1091+349_1091+350insC
ENST00000342245.8:c.1091+349_1091+350insC	ENSP00000340409.4:n.1091+349_1091+350insC
ENST00000526280.1:c.320+309_320+310insC
ENST00000527275.5:c.1088+349_1088+350insC	ENSP00000435350.1:n.1088+349_1088+350insC
ENST00000531303.5:c.439-711_439-710insC	ENSP00000432625.1:n.439-711_439-710insC
ENST00000533123.5:c.1091+349_1091+350insC	ENSP00000435950.1:n.1091+349_1091+350insC
ENST00000534405.5:c.1131+309_1131+310insC	ENSP00000434353.1:n.1131+309_1131+310insC
NM_000543.4:c.1091+349_1091+350insC	NP_000534.3:n.1091+349_1091+350insC
NM_001007593.2:c.1088+349_1088+350insC	NP_001007594.2:n.1088+349_1088+350insC
XM_005253075.3:c.1091+349_1091+350insC	XP_005253132.1:n.1091+349_1091+350insC
XM_011520303.1:c.1131+309_1131+310insC	XP_011518605.1:n.1131+309_1131+310insC
XM_011520304.1:c.1131+309_1131+310insC	XP_011518606.1:n.1131+309_1131+310insC
XR_930886.1:n.1429+309_1429+310insC
NM_001318087.1:c.1091+349_1091+350insC	NP_001305016.1:n.1091+349_1091+350insC
NM_001318088.1:c.170+309_170+310insC	NP_001305017.1:n.170+309_170+310insC
NM_001365135.1:c.1131+309_1131+310insC	NP_001352064.1:n.1131+309_1131+310insC
NR_027400.2:n.1276+349_1276+350insC
NR_134502.1:n.624-711_624-710insC
XM_011520304.2:c.1131+309_1131+310insC	XP_011518606.1:n.1131+309_1131+310insC
XR_001747940.2:n.1256+309_1256+310insC
XR_002957158.1:n.1256+309_1256+310insC
NM_000543.5:c.1091+349_1091+350insC MANE Select	NP_000534.3:n.1091+349_1091+350insC
NM_001007593.3:c.1088+349_1088+350insC	NP_001007594.2:n.1088+349_1088+350insC
NM_001318087.2:c.1091+349_1091+350insC	NP_001305016.1:n.1091+349_1091+350insC
NM_001318088.2:c.170+309_170+310insC	NP_001305017.1:n.170+309_170+310insC
NM_001365135.2:c.1131+309_1131+310insC	NP_001352064.1:n.1131+309_1131+310insC
NR_027400.3:n.1216+349_1216+350insC
NR_134502.2:n.564-711_564-710insC