Canonical Allele Identifier: CA472909923

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414912A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393682A>T , CM000673.2:g.6393682A>T	GRCh38
NC_000011.9:g.6414912A>T , CM000673.1:g.6414912A>T	GRCh37
NC_000011.8:g.6371488A>T	NCBI36
NG_011780.1:g.8258A>T
NG_029615.1:g.30733T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1329A>T MANE Select	ENSP00000340409.4:p.Arg443=
ENST00000342245.8:c.1329A>T	ENSP00000340409.4:p.Arg443=
ENST00000526280.1:c.386A>T
ENST00000527275.5:c.1326A>T	ENSP00000435350.1:p.Arg442=
ENST00000531303.5:c.*160A>T	ENSP00000432625.1:n.*160A>T
ENST00000531336.1:n.161A>T
ENST00000532367.1:n.165A>T
ENST00000533123.5:c.*56A>T	ENSP00000435950.1:n.*56A>T
ENST00000534405.5:c.*160A>T	ENSP00000434353.1:n.*160A>T
NM_000543.4:c.1329A>T	NP_000534.3:p.Arg443=
NM_001007593.2:c.1326A>T	NP_001007594.2:p.Arg442=
XM_005253075.3:c.1329A>T	XP_005253132.1:p.Arg443=
XM_011520303.1:c.1197A>T	XP_011518605.1:p.Arg399=
XM_011520304.1:c.1197A>T	XP_011518606.1:p.Arg399=
XR_930886.1:n.1667A>T
NM_001318087.1:c.1329A>T	NP_001305016.1:p.Arg443=
NM_001318088.1:c.408A>T	NP_001305017.1:p.Arg136=
NM_001365135.1:c.1197A>T	NP_001352064.1:p.Arg399=
NR_027400.2:n.1342A>T
NR_134502.1:n.861A>T
XM_011520304.2:c.1197A>T	XP_011518606.1:p.Arg399=
XR_001747940.2:n.1494A>T
XR_002957158.1:n.1494A>T
NM_000543.5:c.1329A>T MANE Select	NP_000534.3:p.Arg443=
NM_001007593.3:c.1326A>T	NP_001007594.2:p.Arg442=
NM_001318087.2:c.1329A>T	NP_001305016.1:p.Arg443=
NM_001318088.2:c.408A>T	NP_001305017.1:p.Arg136=
NM_001365135.2:c.1197A>T	NP_001352064.1:p.Arg399=
NR_027400.3:n.1282A>T
NR_134502.2:n.801A>T