Canonical Allele Identifier: CA217298948

Gene: SMPD1

Linked Data

• dbSNP Id: rs868461041

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390666_6390667delinsAA , CM000673.2:g.6390666_6390667delinsAA	GRCh38
NC_000011.9:g.6411896_6411897delinsAA , CM000673.1:g.6411896_6411897delinsAA	GRCh37
NC_000011.8:g.6368472_6368473delinsAA	NCBI36
NG_011780.1:g.5242_5243delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.68_69delinsAA MANE Select	ENSP00000340409.4:p.Gly23Glu
ENST00000342245.8:c.68_69delinsAA	ENSP00000340409.4:p.Gly23Glu
ENST00000527275.5:c.68_69delinsAA	ENSP00000435350.1:p.Gly23Glu
ENST00000530395.1:c.-96+27_-96+28delinsAA	ENSP00000431479.1:n.-96+27_-96+28delinsAA
ENST00000531303.5:c.68_69delinsAA	ENSP00000432625.1:p.Gly23Glu
ENST00000533123.5:c.68_69delinsAA	ENSP00000435950.1:p.Gly23Glu
ENST00000533196.1:n.227_228delinsAA
ENST00000534405.5:c.68_69delinsAA	ENSP00000434353.1:p.Gly23Glu
NM_000543.4:c.68_69delinsAA	NP_000534.3:p.Gly23Glu
NM_001007593.2:c.68_69delinsAA	NP_001007594.2:p.Gly23Glu
XM_005253075.3:c.68_69delinsAA	XP_005253132.1:p.Gly23Glu
XM_011520303.1:c.68_69delinsAA	XP_011518605.1:p.Gly23Glu
XM_011520304.1:c.68_69delinsAA	XP_011518606.1:p.Gly23Glu
XR_930886.1:n.366_367delinsAA
NM_001318087.1:c.68_69delinsAA	NP_001305016.1:p.Gly23Glu
NM_001318088.1:c.-894_-893delinsAA	NP_001305017.1:n.-894_-893delinsAA
NM_001365135.1:c.68_69delinsAA	NP_001352064.1:p.Gly23Glu
NR_027400.2:n.253_254delinsAA
NR_134502.1:n.253_254delinsAA
XM_011520304.2:c.68_69delinsAA	XP_011518606.1:p.Gly23Glu
XR_001747940.2:n.193_194delinsAA
XR_002957158.1:n.193_194delinsAA
NM_000543.5:c.68_69delinsAA MANE Select	NP_000534.3:p.Gly23Glu
NM_001007593.3:c.68_69delinsAA	NP_001007594.2:p.Gly23Glu
NM_001318087.2:c.68_69delinsAA	NP_001305016.1:p.Gly23Glu
NM_001318088.2:c.-894_-893delinsAA	NP_001305017.1:n.-894_-893delinsAA
NM_001365135.2:c.68_69delinsAA	NP_001352064.1:p.Gly23Glu
NR_027400.3:n.193_194delinsAA
NR_134502.2:n.193_194delinsAA