Canonical Allele Identifier: CA1950149906

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848095531

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394441_6394442insCCCTC , CM000673.2:g.6394441_6394442insCCCTC	GRCh38
NC_000011.9:g.6415671_6415672insCCCTC , CM000673.1:g.6415671_6415672insCCCTC	GRCh37
NC_000011.8:g.6372247_6372248insCCCTC	NCBI36
NG_011780.1:g.9017_9018insCCCTC
NG_029615.1:g.29973_29974insGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1730_1731insCCCTC MANE Select	ENSP00000340409.4:p.Lys578ProfsTer?
ENST00000342245.8:c.1730_1731insCCCTC	ENSP00000340409.4:p.Lys578ProfsTer?
ENST00000526280.1:c.787_788insCCCTC
ENST00000527275.5:c.1727_1728insCCCTC	ENSP00000435350.1:p.Lys577ProfsTer?
ENST00000531303.5:c.*581_*582insCCCTC	ENSP00000432625.1:n.*581_*582insCCCTC
ENST00000533123.5:c.*457_*458insCCCTC	ENSP00000435950.1:n.*457_*458insCCCTC
ENST00000534405.5:c.*561_*562insCCCTC	ENSP00000434353.1:n.*561_*562insCCCTC
NM_000543.4:c.1730_1731insCCCTC	NP_000534.3:p.Lys578ProfsTer?
NM_001007593.2:c.1727_1728insCCCTC	NP_001007594.2:p.Lys577ProfsTer?
XM_005253075.3:c.*223_*224insCCCTC	XP_005253132.1:n.*223_*224insCCCTC
XM_011520303.1:c.1598_1599insCCCTC	XP_011518605.1:p.Lys534ProfsTer?
XM_011520304.1:c.*223_*224insCCCTC	XP_011518606.1:n.*223_*224insCCCTC
NM_001318087.1:c.*223_*224insCCCTC	NP_001305016.1:n.*223_*224insCCCTC
NM_001318088.1:c.809_810insCCCTC	NP_001305017.1:p.Lys271ProfsTer?
NM_001365135.1:c.1598_1599insCCCTC	NP_001352064.1:p.Lys534ProfsTer?
NR_027400.2:n.1743_1744insCCCTC
NR_134502.1:n.1282_1283insCCCTC
XM_011520304.2:c.*223_*224insCCCTC	XP_011518606.1:n.*223_*224insCCCTC
XR_001747940.2:n.1915_1916insCCCTC
XR_002957158.1:n.2097_2098insCCCTC
NM_000543.5:c.1730_1731insCCCTC MANE Select	NP_000534.3:p.Lys578ProfsTer?
NM_001007593.3:c.1727_1728insCCCTC	NP_001007594.2:p.Lys577ProfsTer?
NM_001318087.2:c.*223_*224insCCCTC	NP_001305016.1:n.*223_*224insCCCTC
NM_001318088.2:c.809_810insCCCTC	NP_001305017.1:p.Lys271ProfsTer?
NM_001365135.2:c.1598_1599insCCCTC	NP_001352064.1:p.Lys534ProfsTer?
NR_027400.3:n.1683_1684insCCCTC
NR_134502.2:n.1222_1223insCCCTC