Canonical Allele Identifier: CA1950145824

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390890T= , CM000673.2:g.6390890T=	GRCh38
NC_000011.9:g.6412120T= , CM000673.1:g.6412120T=	GRCh37
NC_000011.8:g.6368696T=	NCBI36
NG_011780.1:g.5466T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.292T= MANE Select	ENSP00000340409.4:p.Phe98=
ENST00000342245.8:c.292T=	ENSP00000340409.4:p.Phe98=
ENST00000527275.5:c.292T=	ENSP00000435350.1:p.Phe98=
ENST00000530395.1:c.-96+251T=	ENSP00000431479.1:n.-96+251T=
ENST00000531303.5:c.292T=	ENSP00000432625.1:p.Phe98=
ENST00000533123.5:c.292T=	ENSP00000435950.1:p.Phe98=
ENST00000533196.1:n.374+77T=
ENST00000534405.5:c.292T=	ENSP00000434353.1:p.Phe98=
NM_000543.4:c.292T=	NP_000534.3:p.Phe98=
NM_001007593.2:c.292T=	NP_001007594.2:p.Phe98=
XM_005253075.3:c.292T=	XP_005253132.1:p.Phe98=
XM_011520303.1:c.292T=	XP_011518605.1:p.Phe98=
XM_011520304.1:c.292T=	XP_011518606.1:p.Phe98=
XR_930886.1:n.590T=
NM_001318087.1:c.292T=	NP_001305016.1:p.Phe98=
NM_001318088.1:c.-670T=	NP_001305017.1:n.-670T=
NM_001365135.1:c.292T=	NP_001352064.1:p.Phe98=
NR_027400.2:n.477T=
NR_134502.1:n.477T=
XM_011520304.2:c.292T=	XP_011518606.1:p.Phe98=
XR_001747940.2:n.417T=
XR_002957158.1:n.417T=
NM_000543.5:c.292T= MANE Select	NP_000534.3:p.Phe98=
NM_001007593.3:c.292T=	NP_001007594.2:p.Phe98=
NM_001318087.2:c.292T=	NP_001305016.1:p.Phe98=
NM_001318088.2:c.-670T=	NP_001305017.1:n.-670T=
NM_001365135.2:c.292T=	NP_001352064.1:p.Phe98=
NR_027400.3:n.417T=
NR_134502.2:n.417T=