Canonical Allele Identifier: CA1950147737

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393218T= , CM000673.2:g.6393218T=	GRCh38
NC_000011.9:g.6414448T= , CM000673.1:g.6414448T=	GRCh37
NC_000011.8:g.6371024T=	NCBI36
NG_011780.1:g.7794T=
NG_029615.1:g.31197A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1094T= MANE Select	ENSP00000340409.4:p.Ile365=
ENST00000342245.8:c.1094T=	ENSP00000340409.4:p.Ile365=
ENST00000526280.1:c.321-399T=
ENST00000527275.5:c.1091T=	ENSP00000435350.1:p.Ile364=
ENST00000531303.5:c.441T=	ENSP00000432625.1:p.Asn147=
ENST00000533123.5:c.1092-399T=	ENSP00000435950.1:n.1092-399T=
ENST00000534405.5:c.1134T=	ENSP00000434353.1:p.Asn378=
NM_000543.4:c.1094T=	NP_000534.3:p.Ile365=
NM_001007593.2:c.1091T=	NP_001007594.2:p.Ile364=
XM_005253075.3:c.1094T=	XP_005253132.1:p.Ile365=
XM_011520303.1:c.1132-399T=	XP_011518605.1:n.1132-399T=
XM_011520304.1:c.1132-399T=	XP_011518606.1:n.1132-399T=
XR_930886.1:n.1432T=
NM_001318087.1:c.1094T=	NP_001305016.1:p.Ile365=
NM_001318088.1:c.173T=	NP_001305017.1:p.Ile58=
NM_001365135.1:c.1132-399T=	NP_001352064.1:n.1132-399T=
NR_027400.2:n.1277-399T=
NR_134502.1:n.626T=
XM_011520304.2:c.1132-399T=	XP_011518606.1:n.1132-399T=
XR_001747940.2:n.1259T=
XR_002957158.1:n.1259T=
NM_000543.5:c.1094T= MANE Select	NP_000534.3:p.Ile365=
NM_001007593.3:c.1091T=	NP_001007594.2:p.Ile364=
NM_001318087.2:c.1094T=	NP_001305016.1:p.Ile365=
NM_001318088.2:c.173T=	NP_001305017.1:p.Ile58=
NM_001365135.2:c.1132-399T=	NP_001352064.1:n.1132-399T=
NR_027400.3:n.1217-399T=
NR_134502.2:n.566T=