Canonical Allele Identifier: CA379374842

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393916C>T , CM000673.2:g.6393916C>T	GRCh38
NC_000011.9:g.6415146C>T , CM000673.1:g.6415146C>T	GRCh37
NC_000011.8:g.6371722C>T	NCBI36
NG_011780.1:g.8492C>T
NG_029615.1:g.30499G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1361C>T MANE Select	NP_000534.3:p.Ala454Val
ENST00000342245.9:c.1361C>T MANE Select	ENSP00000340409.4:p.Ala454Val
NM_000543.4:c.1361C>T	NP_000534.3:p.Ala454Val
NM_001007593.2:c.1358C>T	NP_001007594.2:p.Ala453Val
NM_001007593.3:c.1358C>T	NP_001007594.2:p.Ala453Val
NM_001318087.1:c.1361C>T	NP_001305016.1:p.Ala454Val
NM_001318087.2:c.1361C>T	NP_001305016.1:p.Ala454Val
NM_001318088.1:c.440C>T	NP_001305017.1:p.Ala147Val
NM_001318088.2:c.440C>T	NP_001305017.1:p.Ala147Val
NM_001365135.1:c.1229C>T	NP_001352064.1:p.Ala410Val
NM_001365135.2:c.1229C>T	NP_001352064.1:p.Ala410Val
NR_027400.2:n.1374C>T
NR_027400.3:n.1314C>T
NR_134502.1:n.893C>T
NR_134502.2:n.833C>T
ENST00000342245.8:c.1361C>T	ENSP00000340409.4:p.Ala454Val
ENST00000526280.1:c.418C>T
ENST00000527275.5:c.1358C>T	ENSP00000435350.1:p.Ala453Val
ENST00000531303.5:c.*192C>T	ENSP00000432625.1:n.*192C>T
ENST00000531336.1:n.193C>T
ENST00000532367.1:n.197C>T
ENST00000533123.5:c.*88C>T	ENSP00000435950.1:n.*88C>T
ENST00000534405.5:c.*192C>T	ENSP00000434353.1:n.*192C>T
XM_005253075.3:c.1361C>T	XP_005253132.1:p.Ala454Val
XM_011520303.1:c.1229C>T	XP_011518605.1:p.Ala410Val
XM_011520304.1:c.1229C>T	XP_011518606.1:p.Ala410Val
XM_011520304.2:c.1229C>T	XP_011518606.1:p.Ala410Val
XR_001747940.2:n.1526C>T
XR_002957158.1:n.1728C>T
XR_930886.1:n.1699C>T