Canonical Allele Identifier: CA379373782

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393357G>T , CM000673.2:g.6393357G>T	GRCh38
NC_000011.9:g.6414587G>T , CM000673.1:g.6414587G>T	GRCh37
NC_000011.8:g.6371163G>T	NCBI36
NG_011780.1:g.7933G>T
NG_029615.1:g.31058C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1233G>T MANE Select	NP_000534.3:p.Glu411Asp
ENST00000342245.9:c.1233G>T MANE Select	ENSP00000340409.4:p.Glu411Asp
NM_000543.4:c.1233G>T	NP_000534.3:p.Glu411Asp
NM_001007593.2:c.1230G>T	NP_001007594.2:p.Glu410Asp
NM_001007593.3:c.1230G>T	NP_001007594.2:p.Glu410Asp
NM_001318087.1:c.1233G>T	NP_001305016.1:p.Glu411Asp
NM_001318087.2:c.1233G>T	NP_001305016.1:p.Glu411Asp
NM_001318088.1:c.312G>T	NP_001305017.1:p.Glu104Asp
NM_001318088.2:c.312G>T	NP_001305017.1:p.Glu104Asp
NM_001365135.1:c.1132-260G>T	NP_001352064.1:n.1132-260G>T
NM_001365135.2:c.1132-260G>T	NP_001352064.1:n.1132-260G>T
NR_027400.2:n.1277-260G>T
NR_027400.3:n.1217-260G>T
NR_134502.1:n.765G>T
NR_134502.2:n.705G>T
ENST00000342245.8:c.1233G>T	ENSP00000340409.4:p.Glu411Asp
ENST00000526280.1:c.321-260G>T
ENST00000527275.5:c.1230G>T	ENSP00000435350.1:p.Glu410Asp
ENST00000531303.5:c.*64G>T	ENSP00000432625.1:n.*64G>T
ENST00000531336.1:n.65G>T
ENST00000533123.5:c.1092-260G>T	ENSP00000435950.1:n.1092-260G>T
ENST00000534405.5:c.*64G>T	ENSP00000434353.1:n.*64G>T
XM_005253075.3:c.1233G>T	XP_005253132.1:p.Glu411Asp
XM_011520303.1:c.1132-260G>T	XP_011518605.1:n.1132-260G>T
XM_011520304.1:c.1132-260G>T	XP_011518606.1:n.1132-260G>T
XM_011520304.2:c.1132-260G>T	XP_011518606.1:n.1132-260G>T
XR_001747940.2:n.1398G>T
XR_002957158.1:n.1398G>T
XR_930886.1:n.1571G>T