Canonical Allele Identifier: CA1950147874

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393262_6393264delinsATC , CM000673.2:g.6393262_6393264delinsATC	GRCh38
NC_000011.9:g.6414492_6414494delinsATC , CM000673.1:g.6414492_6414494delinsATC	GRCh37
NC_000011.8:g.6371068_6371070delinsATC	NCBI36
NG_011780.1:g.7838_7840delinsATC
NG_029615.1:g.31151_31153delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1138_1140delinsATC MANE Select	ENSP00000340409.4:p.Ile380=
ENST00000342245.8:c.1138_1140delinsATC	ENSP00000340409.4:p.Ile380=
ENST00000526280.1:c.321-355_321-353delinsATC
ENST00000527275.5:c.1135_1137delinsATC	ENSP00000435350.1:p.Ile379=
ENST00000531303.5:c.485_487delinsATC	ENSP00000432625.1:p.His162=
ENST00000533123.5:c.1092-355_1092-353delinsATC	ENSP00000435950.1:n.1092-355_1092-353delinsATC
ENST00000534405.5:c.1178_1180delinsATC	ENSP00000434353.1:p.His393=
NM_000543.4:c.1138_1140delinsATC	NP_000534.3:p.Ile380=
NM_001007593.2:c.1135_1137delinsATC	NP_001007594.2:p.Ile379=
XM_005253075.3:c.1138_1140delinsATC	XP_005253132.1:p.Ile380=
XM_011520303.1:c.1132-355_1132-353delinsATC	XP_011518605.1:n.1132-355_1132-353delinsATC
XM_011520304.1:c.1132-355_1132-353delinsATC	XP_011518606.1:n.1132-355_1132-353delinsATC
XR_930886.1:n.1476_1478delinsATC
NM_001318087.1:c.1138_1140delinsATC	NP_001305016.1:p.Ile380=
NM_001318088.1:c.217_219delinsATC	NP_001305017.1:p.Ile73=
NM_001365135.1:c.1132-355_1132-353delinsATC	NP_001352064.1:n.1132-355_1132-353delinsATC
NR_027400.2:n.1277-355_1277-353delinsATC
NR_134502.1:n.670_672delinsATC
XM_011520304.2:c.1132-355_1132-353delinsATC	XP_011518606.1:n.1132-355_1132-353delinsATC
XR_001747940.2:n.1303_1305delinsATC
XR_002957158.1:n.1303_1305delinsATC
NM_000543.5:c.1138_1140delinsATC MANE Select	NP_000534.3:p.Ile380=
NM_001007593.3:c.1135_1137delinsATC	NP_001007594.2:p.Ile379=
NM_001318087.2:c.1138_1140delinsATC	NP_001305016.1:p.Ile380=
NM_001318088.2:c.217_219delinsATC	NP_001305017.1:p.Ile73=
NM_001365135.2:c.1132-355_1132-353delinsATC	NP_001352064.1:n.1132-355_1132-353delinsATC
NR_027400.3:n.1217-355_1217-353delinsATC
NR_134502.2:n.610_612delinsATC