Canonical Allele Identifier: CA5852581

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391402C>T , CM000673.2:g.6391402C>T	GRCh38
NC_000011.9:g.6412632C>T , CM000673.1:g.6412632C>T	GRCh37
NC_000011.8:g.6369208C>T	NCBI36
NG_011780.1:g.5978C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.337C>T MANE Select	NP_000534.3:p.Arg113Cys
ENST00000342245.9:c.337C>T MANE Select	ENSP00000340409.4:p.Arg113Cys
NM_000543.4:c.337C>T	NP_000534.3:p.Arg113Cys
NM_001007593.2:c.334C>T	NP_001007594.2:p.Arg112Cys
NM_001007593.3:c.334C>T	NP_001007594.2:p.Arg112Cys
NM_001318087.1:c.337C>T	NP_001305016.1:p.Arg113Cys
NM_001318087.2:c.337C>T	NP_001305016.1:p.Arg113Cys
NM_001318088.1:c.-625C>T	NP_001305017.1:n.-625C>T
NM_001318088.2:c.-625C>T	NP_001305017.1:n.-625C>T
NM_001365135.1:c.337C>T	NP_001352064.1:p.Arg113Cys
NM_001365135.2:c.337C>T	NP_001352064.1:p.Arg113Cys
NR_027400.2:n.522C>T
NR_027400.3:n.462C>T
NR_134502.1:n.522C>T
NR_134502.2:n.462C>T
ENST00000342245.8:c.337C>T	ENSP00000340409.4:p.Arg113Cys
ENST00000527275.5:c.334C>T	ENSP00000435350.1:p.Arg112Cys
ENST00000530395.1:c.-95-388C>T	ENSP00000431479.1:n.-95-388C>T
ENST00000531303.5:c.337C>T	ENSP00000432625.1:p.Arg113Cys
ENST00000533123.5:c.337C>T	ENSP00000435950.1:p.Arg113Cys
ENST00000533196.1:n.374+589C>T
ENST00000534405.5:c.337C>T	ENSP00000434353.1:p.Arg113Cys
XM_005253075.3:c.337C>T	XP_005253132.1:p.Arg113Cys
XM_011520303.1:c.337C>T	XP_011518605.1:p.Arg113Cys
XM_011520304.1:c.337C>T	XP_011518606.1:p.Arg113Cys
XM_011520304.2:c.337C>T	XP_011518606.1:p.Arg113Cys
XR_001747940.2:n.462C>T
XR_002957158.1:n.462C>T
XR_930886.1:n.635C>T