Canonical Allele Identifier: CA1950145778

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390803C= , CM000673.2:g.6390803C=	GRCh38
NC_000011.9:g.6412033C= , CM000673.1:g.6412033C=	GRCh37
NC_000011.8:g.6368609C=	NCBI36
NG_011780.1:g.5379C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.205C= MANE Select	ENSP00000340409.4:p.His69=
ENST00000342245.8:c.205C=	ENSP00000340409.4:p.His69=
ENST00000527275.5:c.205C=	ENSP00000435350.1:p.His69=
ENST00000530395.1:c.-96+164C=	ENSP00000431479.1:n.-96+164C=
ENST00000531303.5:c.205C=	ENSP00000432625.1:p.His69=
ENST00000533123.5:c.205C=	ENSP00000435950.1:p.His69=
ENST00000533196.1:n.364C=
ENST00000534405.5:c.205C=	ENSP00000434353.1:p.His69=
NM_000543.4:c.205C=	NP_000534.3:p.His69=
NM_001007593.2:c.205C=	NP_001007594.2:p.His69=
XM_005253075.3:c.205C=	XP_005253132.1:p.His69=
XM_011520303.1:c.205C=	XP_011518605.1:p.His69=
XM_011520304.1:c.205C=	XP_011518606.1:p.His69=
XR_930886.1:n.503C=
NM_001318087.1:c.205C=	NP_001305016.1:p.His69=
NM_001318088.1:c.-757C=	NP_001305017.1:n.-757C=
NM_001365135.1:c.205C=	NP_001352064.1:p.His69=
NR_027400.2:n.390C=
NR_134502.1:n.390C=
XM_011520304.2:c.205C=	XP_011518606.1:p.His69=
XR_001747940.2:n.330C=
XR_002957158.1:n.330C=
NM_000543.5:c.205C= MANE Select	NP_000534.3:p.His69=
NM_001007593.3:c.205C=	NP_001007594.2:p.His69=
NM_001318087.2:c.205C=	NP_001305016.1:p.His69=
NM_001318088.2:c.-757C=	NP_001305017.1:n.-757C=
NM_001365135.2:c.205C=	NP_001352064.1:p.His69=
NR_027400.3:n.330C=
NR_134502.2:n.330C=