Canonical Allele Identifier: CA1950146196

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391570C= , CM000673.2:g.6391570C=	GRCh38
NC_000011.9:g.6412800C= , CM000673.1:g.6412800C=	GRCh37
NC_000011.8:g.6369376C=	NCBI36
NG_011780.1:g.6146C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.505C= MANE Select	ENSP00000340409.4:p.His169=
ENST00000342245.8:c.505C=	ENSP00000340409.4:p.His169=
ENST00000527275.5:c.502C=	ENSP00000435350.1:p.His168=
ENST00000530395.1:c.-95-220C=	ENSP00000431479.1:n.-95-220C=
ENST00000531303.5:c.438+67C=	ENSP00000432625.1:n.438+67C=
ENST00000533123.5:c.505C=	ENSP00000435950.1:p.His169=
ENST00000533196.1:n.375-436C=
ENST00000534405.5:c.505C=	ENSP00000434353.1:p.His169=
NM_000543.4:c.505C=	NP_000534.3:p.His169=
NM_001007593.2:c.502C=	NP_001007594.2:p.His168=
XM_005253075.3:c.505C=	XP_005253132.1:p.His169=
XM_011520303.1:c.505C=	XP_011518605.1:p.His169=
XM_011520304.1:c.505C=	XP_011518606.1:p.His169=
XR_930886.1:n.803C=
NM_001318087.1:c.505C=	NP_001305016.1:p.His169=
NM_001318088.1:c.-457C=	NP_001305017.1:n.-457C=
NM_001365135.1:c.505C=	NP_001352064.1:p.His169=
NR_027400.2:n.690C=
NR_134502.1:n.623+67C=
XM_011520304.2:c.505C=	XP_011518606.1:p.His169=
XR_001747940.2:n.630C=
XR_002957158.1:n.630C=
NM_000543.5:c.505C= MANE Select	NP_000534.3:p.His169=
NM_001007593.3:c.502C=	NP_001007594.2:p.His168=
NM_001318087.2:c.505C=	NP_001305016.1:p.His169=
NM_001318088.2:c.-457C=	NP_001305017.1:n.-457C=
NM_001365135.2:c.505C=	NP_001352064.1:p.His169=
NR_027400.3:n.630C=
NR_134502.2:n.563+67C=