Canonical Allele Identifier: CA379370944

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391819T>C , CM000673.2:g.6391819T>C	GRCh38
NC_000011.9:g.6413049T>C , CM000673.1:g.6413049T>C	GRCh37
NC_000011.8:g.6369625T>C	NCBI36
NG_011780.1:g.6395T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.754T>C MANE Select	NP_000534.3:p.Cys252Arg
ENST00000342245.9:c.754T>C MANE Select	ENSP00000340409.4:p.Cys252Arg
NM_000543.4:c.754T>C	NP_000534.3:p.Cys252Arg
NM_001007593.2:c.751T>C	NP_001007594.2:p.Cys251Arg
NM_001007593.3:c.751T>C	NP_001007594.2:p.Cys251Arg
NM_001318087.1:c.754T>C	NP_001305016.1:p.Cys252Arg
NM_001318087.2:c.754T>C	NP_001305016.1:p.Cys252Arg
NM_001318088.1:c.-208T>C	NP_001305017.1:n.-208T>C
NM_001318088.2:c.-208T>C	NP_001305017.1:n.-208T>C
NM_001365135.1:c.754T>C	NP_001352064.1:p.Cys252Arg
NM_001365135.2:c.754T>C	NP_001352064.1:p.Cys252Arg
NR_027400.2:n.939T>C
NR_027400.3:n.879T>C
NR_134502.1:n.623+316T>C
NR_134502.2:n.563+316T>C
ENST00000342245.8:c.754T>C	ENSP00000340409.4:p.Cys252Arg
ENST00000527275.5:c.751T>C	ENSP00000435350.1:p.Cys251Arg
ENST00000530395.1:c.-66T>C	ENSP00000431479.1:n.-66T>C
ENST00000531303.5:c.438+316T>C	ENSP00000432625.1:n.438+316T>C
ENST00000533123.5:c.754T>C	ENSP00000435950.1:p.Cys252Arg
ENST00000533196.1:n.375-187T>C
ENST00000534405.5:c.754T>C	ENSP00000434353.1:p.Cys252Arg
XM_005253075.3:c.754T>C	XP_005253132.1:p.Cys252Arg
XM_011520303.1:c.754T>C	XP_011518605.1:p.Cys252Arg
XM_011520304.1:c.754T>C	XP_011518606.1:p.Cys252Arg
XM_011520304.2:c.754T>C	XP_011518606.1:p.Cys252Arg
XR_001747940.2:n.879T>C
XR_002957158.1:n.879T>C
XR_930886.1:n.1052T>C