Canonical Allele Identifier: CA934768319

Gene: SMPD1

Linked Data

• dbSNP Id: rs1311020167
• gnomAD v3: 11-6392508-T-TC
• gnomAD v4: 11-6392508-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392508_6392509insC , CM000673.2:g.6392508_6392509insC	GRCh38
NC_000011.9:g.6413738_6413739insC , CM000673.1:g.6413738_6413739insC	GRCh37
NC_000011.8:g.6370314_6370315insC	NCBI36
NG_011780.1:g.7084_7085insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+352_1091+353insC MANE Select	ENSP00000340409.4:n.1091+352_1091+353insC
ENST00000342245.8:c.1091+352_1091+353insC	ENSP00000340409.4:n.1091+352_1091+353insC
ENST00000526280.1:c.320+312_320+313insC
ENST00000527275.5:c.1088+352_1088+353insC	ENSP00000435350.1:n.1088+352_1088+353insC
ENST00000531303.5:c.439-708_439-707insC	ENSP00000432625.1:n.439-708_439-707insC
ENST00000533123.5:c.1091+352_1091+353insC	ENSP00000435950.1:n.1091+352_1091+353insC
ENST00000534405.5:c.1131+312_1131+313insC	ENSP00000434353.1:n.1131+312_1131+313insC
NM_000543.4:c.1091+352_1091+353insC	NP_000534.3:n.1091+352_1091+353insC
NM_001007593.2:c.1088+352_1088+353insC	NP_001007594.2:n.1088+352_1088+353insC
XM_005253075.3:c.1091+352_1091+353insC	XP_005253132.1:n.1091+352_1091+353insC
XM_011520303.1:c.1131+312_1131+313insC	XP_011518605.1:n.1131+312_1131+313insC
XM_011520304.1:c.1131+312_1131+313insC	XP_011518606.1:n.1131+312_1131+313insC
XR_930886.1:n.1429+312_1429+313insC
NM_001318087.1:c.1091+352_1091+353insC	NP_001305016.1:n.1091+352_1091+353insC
NM_001318088.1:c.170+312_170+313insC	NP_001305017.1:n.170+312_170+313insC
NM_001365135.1:c.1131+312_1131+313insC	NP_001352064.1:n.1131+312_1131+313insC
NR_027400.2:n.1276+352_1276+353insC
NR_134502.1:n.624-708_624-707insC
XM_011520304.2:c.1131+312_1131+313insC	XP_011518606.1:n.1131+312_1131+313insC
XR_001747940.2:n.1256+312_1256+313insC
XR_002957158.1:n.1256+312_1256+313insC
NM_000543.5:c.1091+352_1091+353insC MANE Select	NP_000534.3:n.1091+352_1091+353insC
NM_001007593.3:c.1088+352_1088+353insC	NP_001007594.2:n.1088+352_1088+353insC
NM_001318087.2:c.1091+352_1091+353insC	NP_001305016.1:n.1091+352_1091+353insC
NM_001318088.2:c.170+312_170+313insC	NP_001305017.1:n.170+312_170+313insC
NM_001365135.2:c.1131+312_1131+313insC	NP_001352064.1:n.1131+312_1131+313insC
NR_027400.3:n.1216+352_1216+353insC
NR_134502.2:n.564-708_564-707insC