Canonical Allele Identifier: CA3003109636

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393568_6393569insGGGT , CM000673.2:g.6393568_6393569insGGGT	GRCh38
NC_000011.9:g.6414798_6414799insGGGT , CM000673.1:g.6414798_6414799insGGGT	GRCh37
NC_000011.8:g.6371374_6371375insGGGT	NCBI36
NG_011780.1:g.8144_8145insGGGT
NG_029615.1:g.30846_30847insACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1264-49_1264-48insGGGT MANE Select	ENSP00000340409.4:n.1264-49_1264-48insGGGT
ENST00000342245.8:c.1264-49_1264-48insGGGT	ENSP00000340409.4:n.1264-49_1264-48insGGGT
ENST00000526280.1:c.321-49_321-48insGGGT
ENST00000527275.5:c.1261-49_1261-48insGGGT	ENSP00000435350.1:n.1261-49_1261-48insGGGT
ENST00000531303.5:c.*95-49_*95-48insGGGT	ENSP00000432625.1:n.*95-49_*95-48insGGGT
ENST00000531336.1:n.96-49_96-48insGGGT
ENST00000532367.1:n.51_52insGGGT
ENST00000533123.5:c.1092-49_1092-48insGGGT	ENSP00000435950.1:n.1092-49_1092-48insGGGT
ENST00000534405.5:c.*95-49_*95-48insGGGT	ENSP00000434353.1:n.*95-49_*95-48insGGGT
NM_000543.4:c.1264-49_1264-48insGGGT	NP_000534.3:n.1264-49_1264-48insGGGT
NM_001007593.2:c.1261-49_1261-48insGGGT	NP_001007594.2:n.1261-49_1261-48insGGGT
XM_005253075.3:c.1264-49_1264-48insGGGT	XP_005253132.1:n.1264-49_1264-48insGGGT
XM_011520303.1:c.1132-49_1132-48insGGGT	XP_011518605.1:n.1132-49_1132-48insGGGT
XM_011520304.1:c.1132-49_1132-48insGGGT	XP_011518606.1:n.1132-49_1132-48insGGGT
XR_930886.1:n.1602-49_1602-48insGGGT
NM_001318087.1:c.1264-49_1264-48insGGGT	NP_001305016.1:n.1264-49_1264-48insGGGT
NM_001318088.1:c.343-49_343-48insGGGT	NP_001305017.1:n.343-49_343-48insGGGT
NM_001365135.1:c.1132-49_1132-48insGGGT	NP_001352064.1:n.1132-49_1132-48insGGGT
NR_027400.2:n.1277-49_1277-48insGGGT
NR_134502.1:n.796-49_796-48insGGGT
XM_011520304.2:c.1132-49_1132-48insGGGT	XP_011518606.1:n.1132-49_1132-48insGGGT
XR_001747940.2:n.1429-49_1429-48insGGGT
XR_002957158.1:n.1429-49_1429-48insGGGT
NM_000543.5:c.1264-49_1264-48insGGGT MANE Select	NP_000534.3:n.1264-49_1264-48insGGGT
NM_001007593.3:c.1261-49_1261-48insGGGT	NP_001007594.2:n.1261-49_1261-48insGGGT
NM_001318087.2:c.1264-49_1264-48insGGGT	NP_001305016.1:n.1264-49_1264-48insGGGT
NM_001318088.2:c.343-49_343-48insGGGT	NP_001305017.1:n.343-49_343-48insGGGT
NM_001365135.2:c.1132-49_1132-48insGGGT	NP_001352064.1:n.1132-49_1132-48insGGGT
NR_027400.3:n.1217-49_1217-48insGGGT
NR_134502.2:n.736-49_736-48insGGGT