Canonical Allele Identifier: CA379375002

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393945G>T , CM000673.2:g.6393945G>T	GRCh38
NC_000011.9:g.6415175G>T , CM000673.1:g.6415175G>T	GRCh37
NC_000011.8:g.6371751G>T	NCBI36
NG_011780.1:g.8521G>T
NG_029615.1:g.30470C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1390G>T MANE Select	NP_000534.3:p.Glu464Ter
ENST00000342245.9:c.1390G>T MANE Select	ENSP00000340409.4:p.Glu464Ter
NM_000543.4:c.1390G>T	NP_000534.3:p.Glu464Ter
NM_001007593.2:c.1387G>T	NP_001007594.2:p.Glu463Ter
NM_001007593.3:c.1387G>T	NP_001007594.2:p.Glu463Ter
NM_001318087.1:c.1390G>T	NP_001305016.1:p.Glu464Ter
NM_001318087.2:c.1390G>T	NP_001305016.1:p.Glu464Ter
NM_001318088.1:c.469G>T	NP_001305017.1:p.Glu157Ter
NM_001318088.2:c.469G>T	NP_001305017.1:p.Glu157Ter
NM_001365135.1:c.1258G>T	NP_001352064.1:p.Glu420Ter
NM_001365135.2:c.1258G>T	NP_001352064.1:p.Glu420Ter
NR_027400.2:n.1403G>T
NR_027400.3:n.1343G>T
NR_134502.1:n.922G>T
NR_134502.2:n.862G>T
ENST00000342245.8:c.1390G>T	ENSP00000340409.4:p.Glu464Ter
ENST00000526280.1:c.447G>T
ENST00000527275.5:c.1387G>T	ENSP00000435350.1:p.Glu463Ter
ENST00000531303.5:c.*221G>T	ENSP00000432625.1:n.*221G>T
ENST00000531336.1:n.222G>T
ENST00000532367.1:n.226G>T
ENST00000533123.5:c.*117G>T	ENSP00000435950.1:n.*117G>T
ENST00000534405.5:c.*221G>T	ENSP00000434353.1:n.*221G>T
XM_005253075.3:c.1390G>T	XP_005253132.1:p.Glu464Ter
XM_011520303.1:c.1258G>T	XP_011518605.1:p.Glu420Ter
XM_011520304.1:c.1258G>T	XP_011518606.1:p.Glu420Ter
XM_011520304.2:c.1258G>T	XP_011518606.1:p.Glu420Ter
XR_001747940.2:n.1555G>T
XR_002957158.1:n.1757G>T
XR_930886.1:n.1728G>T