Canonical Allele Identifier: CA1950149476

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394257C= , CM000673.2:g.6394257C=	GRCh38
NC_000011.9:g.6415487C= , CM000673.1:g.6415487C=	GRCh37
NC_000011.8:g.6372063C=	NCBI36
NG_011780.1:g.8833C=
NG_029615.1:g.30158G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1546C= MANE Select	ENSP00000340409.4:p.His516=
ENST00000342245.8:c.1546C=	ENSP00000340409.4:p.His516=
ENST00000526280.1:c.603C=
ENST00000527275.5:c.1543C=	ENSP00000435350.1:p.His515=
ENST00000531303.5:c.*397C=	ENSP00000432625.1:n.*397C=
ENST00000531336.1:n.534C=
ENST00000533123.5:c.*273C=	ENSP00000435950.1:n.*273C=
ENST00000534405.5:c.*377C=	ENSP00000434353.1:n.*377C=
NM_000543.4:c.1546C=	NP_000534.3:p.His516=
NM_001007593.2:c.1543C=	NP_001007594.2:p.His515=
XM_005253075.3:c.*39C=	XP_005253132.1:n.*39C=
XM_011520303.1:c.1414C=	XP_011518605.1:p.His472=
XM_011520304.1:c.*39C=	XP_011518606.1:n.*39C=
NM_001318087.1:c.*39C=	NP_001305016.1:n.*39C=
NM_001318088.1:c.625C=	NP_001305017.1:p.His209=
NM_001365135.1:c.1414C=	NP_001352064.1:p.His472=
NR_027400.2:n.1559C=
NR_134502.1:n.1098C=
XM_011520304.2:c.*39C=	XP_011518606.1:n.*39C=
XR_001747940.2:n.1731C=
XR_002957158.1:n.1913C=
NM_000543.5:c.1546C= MANE Select	NP_000534.3:p.His516=
NM_001007593.3:c.1543C=	NP_001007594.2:p.His515=
NM_001318087.2:c.*39C=	NP_001305016.1:n.*39C=
NM_001318088.2:c.625C=	NP_001305017.1:p.His209=
NM_001365135.2:c.1414C=	NP_001352064.1:p.His472=
NR_027400.3:n.1499C=
NR_134502.2:n.1038C=