Canonical Allele Identifier: CA1950146528

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392092C= , CM000673.2:g.6392092C=	GRCh38
NC_000011.9:g.6413322C= , CM000673.1:g.6413322C=	GRCh37
NC_000011.8:g.6369898C=	NCBI36
NG_011780.1:g.6668C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1027C= MANE Select	ENSP00000340409.4:p.Leu343=
ENST00000342245.8:c.1027C=	ENSP00000340409.4:p.Leu343=
ENST00000526280.1:c.216C=
ENST00000527275.5:c.1024C=	ENSP00000435350.1:p.Leu342=
ENST00000531303.5:c.438+589C=	ENSP00000432625.1:n.438+589C=
ENST00000533123.5:c.1027C=	ENSP00000435950.1:p.Leu343=
ENST00000534405.5:c.1027C=	ENSP00000434353.1:p.Leu343=
NM_000543.4:c.1027C=	NP_000534.3:p.Leu343=
NM_001007593.2:c.1024C=	NP_001007594.2:p.Leu342=
XM_005253075.3:c.1027C=	XP_005253132.1:p.Leu343=
XM_011520303.1:c.1027C=	XP_011518605.1:p.Leu343=
XM_011520304.1:c.1027C=	XP_011518606.1:p.Leu343=
XR_930886.1:n.1325C=
NM_001318087.1:c.1027C=	NP_001305016.1:p.Leu343=
NM_001318088.1:c.66C=	NP_001305017.1:p.Gly22=
NM_001365135.1:c.1027C=	NP_001352064.1:p.Leu343=
NR_027400.2:n.1212C=
NR_134502.1:n.623+589C=
XM_011520304.2:c.1027C=	XP_011518606.1:p.Leu343=
XR_001747940.2:n.1152C=
XR_002957158.1:n.1152C=
NM_000543.5:c.1027C= MANE Select	NP_000534.3:p.Leu343=
NM_001007593.3:c.1024C=	NP_001007594.2:p.Leu342=
NM_001318087.2:c.1027C=	NP_001305016.1:p.Leu343=
NM_001318088.2:c.66C=	NP_001305017.1:p.Gly22=
NM_001365135.2:c.1027C=	NP_001352064.1:p.Leu343=
NR_027400.3:n.1152C=
NR_134502.2:n.563+589C=