Canonical Allele Identifier: CA934768453

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847980713
• gnomAD v3: 11-6392518-G-GTTTT
• gnomAD v4: 11-6392518-G-GTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392518_6392519insTTTT , CM000673.2:g.6392518_6392519insTTTT	GRCh38
NC_000011.9:g.6413748_6413749insTTTT , CM000673.1:g.6413748_6413749insTTTT	GRCh37
NC_000011.8:g.6370324_6370325insTTTT	NCBI36
NG_011780.1:g.7094_7095insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+362_1091+363insTTTT MANE Select	ENSP00000340409.4:n.1091+362_1091+363insTTTT
ENST00000342245.8:c.1091+362_1091+363insTTTT	ENSP00000340409.4:n.1091+362_1091+363insTTTT
ENST00000526280.1:c.320+322_320+323insTTTT
ENST00000527275.5:c.1088+362_1088+363insTTTT	ENSP00000435350.1:n.1088+362_1088+363insTTTT
ENST00000531303.5:c.439-698_439-697insTTTT	ENSP00000432625.1:n.439-698_439-697insTTTT
ENST00000533123.5:c.1091+362_1091+363insTTTT	ENSP00000435950.1:n.1091+362_1091+363insTTTT
ENST00000534405.5:c.1131+322_1131+323insTTTT	ENSP00000434353.1:n.1131+322_1131+323insTTTT
NM_000543.4:c.1091+362_1091+363insTTTT	NP_000534.3:n.1091+362_1091+363insTTTT
NM_001007593.2:c.1088+362_1088+363insTTTT	NP_001007594.2:n.1088+362_1088+363insTTTT
XM_005253075.3:c.1091+362_1091+363insTTTT	XP_005253132.1:n.1091+362_1091+363insTTTT
XM_011520303.1:c.1131+322_1131+323insTTTT	XP_011518605.1:n.1131+322_1131+323insTTTT
XM_011520304.1:c.1131+322_1131+323insTTTT	XP_011518606.1:n.1131+322_1131+323insTTTT
XR_930886.1:n.1429+322_1429+323insTTTT
NM_001318087.1:c.1091+362_1091+363insTTTT	NP_001305016.1:n.1091+362_1091+363insTTTT
NM_001318088.1:c.170+322_170+323insTTTT	NP_001305017.1:n.170+322_170+323insTTTT
NM_001365135.1:c.1131+322_1131+323insTTTT	NP_001352064.1:n.1131+322_1131+323insTTTT
NR_027400.2:n.1276+362_1276+363insTTTT
NR_134502.1:n.624-698_624-697insTTTT
XM_011520304.2:c.1131+322_1131+323insTTTT	XP_011518606.1:n.1131+322_1131+323insTTTT
XR_001747940.2:n.1256+322_1256+323insTTTT
XR_002957158.1:n.1256+322_1256+323insTTTT
NM_000543.5:c.1091+362_1091+363insTTTT MANE Select	NP_000534.3:n.1091+362_1091+363insTTTT
NM_001007593.3:c.1088+362_1088+363insTTTT	NP_001007594.2:n.1088+362_1088+363insTTTT
NM_001318087.2:c.1091+362_1091+363insTTTT	NP_001305016.1:n.1091+362_1091+363insTTTT
NM_001318088.2:c.170+322_170+323insTTTT	NP_001305017.1:n.170+322_170+323insTTTT
NM_001365135.2:c.1131+322_1131+323insTTTT	NP_001352064.1:n.1131+322_1131+323insTTTT
NR_027400.3:n.1216+362_1216+363insTTTT
NR_134502.2:n.564-698_564-697insTTTT