Canonical Allele Identifier: CA1950146192

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391563_6391564delinsCT , CM000673.2:g.6391563_6391564delinsCT	GRCh38
NC_000011.9:g.6412793_6412794delinsCT , CM000673.1:g.6412793_6412794delinsCT	GRCh37
NC_000011.8:g.6369369_6369370delinsCT	NCBI36
NG_011780.1:g.6139_6140delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.498_499delinsCT MANE Select	ENSP00000340409.4:p.Thr166=
ENST00000342245.8:c.498_499delinsCT	ENSP00000340409.4:p.Thr166=
ENST00000527275.5:c.495_496delinsCT	ENSP00000435350.1:p.Thr165=
ENST00000530395.1:c.-95-227_-95-226delinsCT	ENSP00000431479.1:n.-95-227_-95-226delinsCT
ENST00000531303.5:c.438+60_438+61delinsCT	ENSP00000432625.1:n.438+60_438+61delinsCT
ENST00000533123.5:c.498_499delinsCT	ENSP00000435950.1:p.Thr166=
ENST00000533196.1:n.375-443_375-442delinsCT
ENST00000534405.5:c.498_499delinsCT	ENSP00000434353.1:p.Thr166=
NM_000543.4:c.498_499delinsCT	NP_000534.3:p.Thr166=
NM_001007593.2:c.495_496delinsCT	NP_001007594.2:p.Thr165=
XM_005253075.3:c.498_499delinsCT	XP_005253132.1:p.Thr166=
XM_011520303.1:c.498_499delinsCT	XP_011518605.1:p.Thr166=
XM_011520304.1:c.498_499delinsCT	XP_011518606.1:p.Thr166=
XR_930886.1:n.796_797delinsCT
NM_001318087.1:c.498_499delinsCT	NP_001305016.1:p.Thr166=
NM_001318088.1:c.-464_-463delinsCT	NP_001305017.1:n.-464_-463delinsCT
NM_001365135.1:c.498_499delinsCT	NP_001352064.1:p.Thr166=
NR_027400.2:n.683_684delinsCT
NR_134502.1:n.623+60_623+61delinsCT
XM_011520304.2:c.498_499delinsCT	XP_011518606.1:p.Thr166=
XR_001747940.2:n.623_624delinsCT
XR_002957158.1:n.623_624delinsCT
NM_000543.5:c.498_499delinsCT MANE Select	NP_000534.3:p.Thr166=
NM_001007593.3:c.495_496delinsCT	NP_001007594.2:p.Thr165=
NM_001318087.2:c.498_499delinsCT	NP_001305016.1:p.Thr166=
NM_001318088.2:c.-464_-463delinsCT	NP_001305017.1:n.-464_-463delinsCT
NM_001365135.2:c.498_499delinsCT	NP_001352064.1:p.Thr166=
NR_027400.3:n.623_624delinsCT
NR_134502.2:n.563+60_563+61delinsCT