Canonical Allele Identifier: CA1950146406

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391944C= , CM000673.2:g.6391944C=	GRCh38
NC_000011.9:g.6413174C= , CM000673.1:g.6413174C=	GRCh37
NC_000011.8:g.6369750C=	NCBI36
NG_011780.1:g.6520C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.879C= MANE Select	ENSP00000340409.4:p.Asp293=
ENST00000342245.8:c.879C=	ENSP00000340409.4:p.Asp293=
ENST00000526280.1:c.68C=
ENST00000527275.5:c.876C=	ENSP00000435350.1:p.Asp292=
ENST00000530395.1:c.60C=	ENSP00000431479.1:p.Asp20=
ENST00000531303.5:c.438+441C=	ENSP00000432625.1:n.438+441C=
ENST00000533123.5:c.879C=	ENSP00000435950.1:p.Asp293=
ENST00000533196.1:n.375-62C=
ENST00000534405.5:c.879C=	ENSP00000434353.1:p.Asp293=
NM_000543.4:c.879C=	NP_000534.3:p.Asp293=
NM_001007593.2:c.876C=	NP_001007594.2:p.Asp292=
XM_005253075.3:c.879C=	XP_005253132.1:p.Asp293=
XM_011520303.1:c.879C=	XP_011518605.1:p.Asp293=
XM_011520304.1:c.879C=	XP_011518606.1:p.Asp293=
XR_930886.1:n.1177C=
NM_001318087.1:c.879C=	NP_001305016.1:p.Asp293=
NM_001318088.1:c.-83C=	NP_001305017.1:n.-83C=
NM_001365135.1:c.879C=	NP_001352064.1:p.Asp293=
NR_027400.2:n.1064C=
NR_134502.1:n.623+441C=
XM_011520304.2:c.879C=	XP_011518606.1:p.Asp293=
XR_001747940.2:n.1004C=
XR_002957158.1:n.1004C=
NM_000543.5:c.879C= MANE Select	NP_000534.3:p.Asp293=
NM_001007593.3:c.876C=	NP_001007594.2:p.Asp292=
NM_001318087.2:c.879C=	NP_001305016.1:p.Asp293=
NM_001318088.2:c.-83C=	NP_001305017.1:n.-83C=
NM_001365135.2:c.879C=	NP_001352064.1:p.Asp293=
NR_027400.3:n.1004C=
NR_134502.2:n.563+441C=