Canonical Allele Identifier: CA1950150102

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394536_6394539delinsTGCC , CM000673.2:g.6394536_6394539delinsTGCC	GRCh38
NC_000011.9:g.6415766_6415769delinsTGCC , CM000673.1:g.6415766_6415769delinsTGCC	GRCh37
NC_000011.8:g.6372342_6372345delinsTGCC	NCBI36
NG_011780.1:g.9112_9115delinsTGCC
NG_029615.1:g.29876_29879delinsGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1825_1828delinsTGCC MANE Select	ENSP00000340409.4:p.Cys609=
ENST00000342245.8:c.1825_1828delinsTGCC	ENSP00000340409.4:p.Cys609=
ENST00000526280.1:c.882_885delinsTGCC
ENST00000527275.5:c.1822_1825delinsTGCC	ENSP00000435350.1:p.Cys608=
ENST00000531303.5:c.*676_*679delinsTGCC	ENSP00000432625.1:n.*676_*679delinsTGCC
ENST00000533123.5:c.*552_*555delinsTGCC	ENSP00000435950.1:n.*552_*555delinsTGCC
ENST00000534405.5:c.*656_*659delinsTGCC	ENSP00000434353.1:n.*656_*659delinsTGCC
NM_000543.4:c.1825_1828delinsTGCC	NP_000534.3:p.Cys609=
NM_001007593.2:c.1822_1825delinsTGCC	NP_001007594.2:p.Cys608=
XM_005253075.3:c.*318_*321delinsTGCC	XP_005253132.1:n.*318_*321delinsTGCC
XM_011520303.1:c.1693_1696delinsTGCC	XP_011518605.1:p.Cys565=
XM_011520304.1:c.*318_*321delinsTGCC	XP_011518606.1:n.*318_*321delinsTGCC
NM_001318087.1:c.*318_*321delinsTGCC	NP_001305016.1:n.*318_*321delinsTGCC
NM_001318088.1:c.904_907delinsTGCC	NP_001305017.1:p.Cys302=
NM_001365135.1:c.1693_1696delinsTGCC	NP_001352064.1:p.Cys565=
NR_027400.2:n.1838_1841delinsTGCC
NR_134502.1:n.1377_1380delinsTGCC
XM_011520304.2:c.*318_*321delinsTGCC	XP_011518606.1:n.*318_*321delinsTGCC
XR_001747940.2:n.2010_2013delinsTGCC
XR_002957158.1:n.2192_2195delinsTGCC
NM_000543.5:c.1825_1828delinsTGCC MANE Select	NP_000534.3:p.Cys609=
NM_001007593.3:c.1822_1825delinsTGCC	NP_001007594.2:p.Cys608=
NM_001318087.2:c.*318_*321delinsTGCC	NP_001305016.1:n.*318_*321delinsTGCC
NM_001318088.2:c.904_907delinsTGCC	NP_001305017.1:p.Cys302=
NM_001365135.2:c.1693_1696delinsTGCC	NP_001352064.1:p.Cys565=
NR_027400.3:n.1778_1781delinsTGCC
NR_134502.2:n.1317_1320delinsTGCC