Canonical Allele Identifier: CA217302932

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394440C>T , CM000673.2:g.6394440C>T	GRCh38
NC_000011.9:g.6415670C>T , CM000673.1:g.6415670C>T	GRCh37
NC_000011.8:g.6372246C>T	NCBI36
NG_011780.1:g.9016C>T
NG_029615.1:g.29975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1729C>T MANE Select	ENSP00000340409.4:p.His577Tyr
ENST00000342245.8:c.1729C>T	ENSP00000340409.4:p.His577Tyr
ENST00000526280.1:c.786C>T
ENST00000527275.5:c.1726C>T	ENSP00000435350.1:p.His576Tyr
ENST00000531303.5:c.*580C>T	ENSP00000432625.1:n.*580C>T
ENST00000533123.5:c.*456C>T	ENSP00000435950.1:n.*456C>T
ENST00000534405.5:c.*560C>T	ENSP00000434353.1:n.*560C>T
NM_000543.4:c.1729C>T	NP_000534.3:p.His577Tyr
NM_001007593.2:c.1726C>T	NP_001007594.2:p.His576Tyr
XM_005253075.3:c.*222C>T	XP_005253132.1:n.*222C>T
XM_011520303.1:c.1597C>T	XP_011518605.1:p.His533Tyr
XM_011520304.1:c.*222C>T	XP_011518606.1:n.*222C>T
NM_001318087.1:c.*222C>T	NP_001305016.1:n.*222C>T
NM_001318088.1:c.808C>T	NP_001305017.1:p.His270Tyr
NM_001365135.1:c.1597C>T	NP_001352064.1:p.His533Tyr
NR_027400.2:n.1742C>T
NR_134502.1:n.1281C>T
XM_011520304.2:c.*222C>T	XP_011518606.1:n.*222C>T
XR_001747940.2:n.1914C>T
XR_002957158.1:n.2096C>T
NM_000543.5:c.1729C>T MANE Select	NP_000534.3:p.His577Tyr
NM_001007593.3:c.1726C>T	NP_001007594.2:p.His576Tyr
NM_001318087.2:c.*222C>T	NP_001305016.1:n.*222C>T
NM_001318088.2:c.808C>T	NP_001305017.1:p.His270Tyr
NM_001365135.2:c.1597C>T	NP_001352064.1:p.His533Tyr
NR_027400.3:n.1682C>T
NR_134502.2:n.1221C>T