Canonical Allele Identifier: CA5852994

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394539C>T , CM000673.2:g.6394539C>T	GRCh38
NC_000011.9:g.6415769C>T , CM000673.1:g.6415769C>T	GRCh37
NC_000011.8:g.6372345C>T	NCBI36
NG_011780.1:g.9115C>T
NG_029615.1:g.29876G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1828C>T MANE Select	NP_000534.3:p.Arg610Cys
ENST00000342245.9:c.1828C>T MANE Select	ENSP00000340409.4:p.Arg610Cys
NM_000543.4:c.1828C>T	NP_000534.3:p.Arg610Cys
NM_001007593.2:c.1825C>T	NP_001007594.2:p.Arg609Cys
NM_001007593.3:c.1825C>T	NP_001007594.2:p.Arg609Cys
NM_001318087.1:c.*321C>T	NP_001305016.1:n.*321C>T
NM_001318087.2:c.*321C>T	NP_001305016.1:n.*321C>T
NM_001318088.1:c.907C>T	NP_001305017.1:p.Arg303Cys
NM_001318088.2:c.907C>T	NP_001305017.1:p.Arg303Cys
NM_001365135.1:c.1696C>T	NP_001352064.1:p.Arg566Cys
NM_001365135.2:c.1696C>T	NP_001352064.1:p.Arg566Cys
NR_027400.2:n.1841C>T
NR_027400.3:n.1781C>T
NR_134502.1:n.1380C>T
NR_134502.2:n.1320C>T
ENST00000342245.8:c.1828C>T	ENSP00000340409.4:p.Arg610Cys
ENST00000526280.1:c.885C>T
ENST00000527275.5:c.1825C>T	ENSP00000435350.1:p.Arg609Cys
ENST00000531303.5:c.*679C>T	ENSP00000432625.1:n.*679C>T
ENST00000533123.5:c.*555C>T	ENSP00000435950.1:n.*555C>T
ENST00000534405.5:c.*659C>T	ENSP00000434353.1:n.*659C>T
XM_005253075.3:c.*321C>T	XP_005253132.1:n.*321C>T
XM_011520303.1:c.1696C>T	XP_011518605.1:p.Arg566Cys
XM_011520304.1:c.*321C>T	XP_011518606.1:n.*321C>T
XM_011520304.2:c.*321C>T	XP_011518606.1:n.*321C>T
XR_001747940.2:n.2013C>T
XR_002957158.1:n.2195C>T