Canonical Allele Identifier: CA1950147074

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847978643

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392509_6392510insC , CM000673.2:g.6392509_6392510insC	GRCh38
NC_000011.9:g.6413739_6413740insC , CM000673.1:g.6413739_6413740insC	GRCh37
NC_000011.8:g.6370315_6370316insC	NCBI36
NG_011780.1:g.7085_7086insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+353_1091+354insC MANE Select	ENSP00000340409.4:n.1091+353_1091+354insC
ENST00000342245.8:c.1091+353_1091+354insC	ENSP00000340409.4:n.1091+353_1091+354insC
ENST00000526280.1:c.320+313_320+314insC
ENST00000527275.5:c.1088+353_1088+354insC	ENSP00000435350.1:n.1088+353_1088+354insC
ENST00000531303.5:c.439-707_439-706insC	ENSP00000432625.1:n.439-707_439-706insC
ENST00000533123.5:c.1091+353_1091+354insC	ENSP00000435950.1:n.1091+353_1091+354insC
ENST00000534405.5:c.1131+313_1131+314insC	ENSP00000434353.1:n.1131+313_1131+314insC
NM_000543.4:c.1091+353_1091+354insC	NP_000534.3:n.1091+353_1091+354insC
NM_001007593.2:c.1088+353_1088+354insC	NP_001007594.2:n.1088+353_1088+354insC
XM_005253075.3:c.1091+353_1091+354insC	XP_005253132.1:n.1091+353_1091+354insC
XM_011520303.1:c.1131+313_1131+314insC	XP_011518605.1:n.1131+313_1131+314insC
XM_011520304.1:c.1131+313_1131+314insC	XP_011518606.1:n.1131+313_1131+314insC
XR_930886.1:n.1429+313_1429+314insC
NM_001318087.1:c.1091+353_1091+354insC	NP_001305016.1:n.1091+353_1091+354insC
NM_001318088.1:c.170+313_170+314insC	NP_001305017.1:n.170+313_170+314insC
NM_001365135.1:c.1131+313_1131+314insC	NP_001352064.1:n.1131+313_1131+314insC
NR_027400.2:n.1276+353_1276+354insC
NR_134502.1:n.624-707_624-706insC
XM_011520304.2:c.1131+313_1131+314insC	XP_011518606.1:n.1131+313_1131+314insC
XR_001747940.2:n.1256+313_1256+314insC
XR_002957158.1:n.1256+313_1256+314insC
NM_000543.5:c.1091+353_1091+354insC MANE Select	NP_000534.3:n.1091+353_1091+354insC
NM_001007593.3:c.1088+353_1088+354insC	NP_001007594.2:n.1088+353_1088+354insC
NM_001318087.2:c.1091+353_1091+354insC	NP_001305016.1:n.1091+353_1091+354insC
NM_001318088.2:c.170+313_170+314insC	NP_001305017.1:n.170+313_170+314insC
NM_001365135.2:c.1131+313_1131+314insC	NP_001352064.1:n.1131+313_1131+314insC
NR_027400.3:n.1216+353_1216+354insC
NR_134502.2:n.564-707_564-706insC