Canonical Allele Identifier: CA918811688

Gene: SMPD1

Linked Data

• dbSNP Id: rs1590741877

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392495_6392496insCTTT , CM000673.2:g.6392495_6392496insCTTT	GRCh38
NC_000011.9:g.6413725_6413726insCTTT , CM000673.1:g.6413725_6413726insCTTT	GRCh37
NC_000011.8:g.6370301_6370302insCTTT	NCBI36
NG_011780.1:g.7071_7072insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+339_1091+340insCTTT MANE Select	ENSP00000340409.4:n.1091+339_1091+340insCTTT
ENST00000342245.8:c.1091+339_1091+340insCTTT	ENSP00000340409.4:n.1091+339_1091+340insCTTT
ENST00000526280.1:c.320+299_320+300insCTTT
ENST00000527275.5:c.1088+339_1088+340insCTTT	ENSP00000435350.1:n.1088+339_1088+340insCTTT
ENST00000531303.5:c.439-721_439-720insCTTT	ENSP00000432625.1:n.439-721_439-720insCTTT
ENST00000533123.5:c.1091+339_1091+340insCTTT	ENSP00000435950.1:n.1091+339_1091+340insCTTT
ENST00000534405.5:c.1131+299_1131+300insCTTT	ENSP00000434353.1:n.1131+299_1131+300insCTTT
NM_000543.4:c.1091+339_1091+340insCTTT	NP_000534.3:n.1091+339_1091+340insCTTT
NM_001007593.2:c.1088+339_1088+340insCTTT	NP_001007594.2:n.1088+339_1088+340insCTTT
XM_005253075.3:c.1091+339_1091+340insCTTT	XP_005253132.1:n.1091+339_1091+340insCTTT
XM_011520303.1:c.1131+299_1131+300insCTTT	XP_011518605.1:n.1131+299_1131+300insCTTT
XM_011520304.1:c.1131+299_1131+300insCTTT	XP_011518606.1:n.1131+299_1131+300insCTTT
XR_930886.1:n.1429+299_1429+300insCTTT
NM_001318087.1:c.1091+339_1091+340insCTTT	NP_001305016.1:n.1091+339_1091+340insCTTT
NM_001318088.1:c.170+299_170+300insCTTT	NP_001305017.1:n.170+299_170+300insCTTT
NM_001365135.1:c.1131+299_1131+300insCTTT	NP_001352064.1:n.1131+299_1131+300insCTTT
NR_027400.2:n.1276+339_1276+340insCTTT
NR_134502.1:n.624-721_624-720insCTTT
XM_011520304.2:c.1131+299_1131+300insCTTT	XP_011518606.1:n.1131+299_1131+300insCTTT
XR_001747940.2:n.1256+299_1256+300insCTTT
XR_002957158.1:n.1256+299_1256+300insCTTT
NM_000543.5:c.1091+339_1091+340insCTTT MANE Select	NP_000534.3:n.1091+339_1091+340insCTTT
NM_001007593.3:c.1088+339_1088+340insCTTT	NP_001007594.2:n.1088+339_1088+340insCTTT
NM_001318087.2:c.1091+339_1091+340insCTTT	NP_001305016.1:n.1091+339_1091+340insCTTT
NM_001318088.2:c.170+299_170+300insCTTT	NP_001305017.1:n.170+299_170+300insCTTT
NM_001365135.2:c.1131+299_1131+300insCTTT	NP_001352064.1:n.1131+299_1131+300insCTTT
NR_027400.3:n.1216+339_1216+340insCTTT
NR_134502.2:n.564-721_564-720insCTTT