Canonical Allele Identifier: CA1950150481

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394833G= , CM000673.2:g.6394833G=	GRCh38
NC_000011.9:g.6416063G= , CM000673.1:g.6416063G=	GRCh37
NC_000011.8:g.6372639G=	NCBI36
NG_011780.1:g.9409G=
NG_029615.1:g.29582C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*226G= MANE Select	ENSP00000340409.4:n.*226G=
ENST00000342245.8:c.*226G=	ENSP00000340409.4:n.*226G=
ENST00000526280.1:c.1179G=
ENST00000533123.5:c.*849G=	ENSP00000435950.1:n.*849G=
ENST00000534405.5:c.*953G=	ENSP00000434353.1:n.*953G=
NM_000543.4:c.*226G=	NP_000534.3:n.*226G=
NM_001007593.2:c.*226G=	NP_001007594.2:n.*226G=
XM_011520303.1:c.*226G=	XP_011518605.1:n.*226G=
NM_001318087.1:c.*615G=	NP_001305016.1:n.*615G=
NM_001318088.1:c.*226G=	NP_001305017.1:n.*226G=
NM_001365135.1:c.*226G=	NP_001352064.1:n.*226G=
NR_027400.2:n.2135G=
NR_134502.1:n.1674G=
XR_001747940.2:n.2307G=
XR_002957158.1:n.2489G=
NM_000543.5:c.*226G= MANE Select	NP_000534.3:n.*226G=
NM_001007593.3:c.*226G=	NP_001007594.2:n.*226G=
NM_001318087.2:c.*615G=	NP_001305016.1:n.*615G=
NM_001318088.2:c.*226G=	NP_001305017.1:n.*226G=
NM_001365135.2:c.*226G=	NP_001352064.1:n.*226G=
NR_027400.3:n.2075G=
NR_134502.2:n.1614G=