Canonical Allele Identifier: CA934769553

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848095531
• gnomAD v3: 11-6394441-A-ACCC
• gnomAD v4: 11-6394441-A-ACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394441_6394442insCCC , CM000673.2:g.6394441_6394442insCCC	GRCh38
NC_000011.9:g.6415671_6415672insCCC , CM000673.1:g.6415671_6415672insCCC	GRCh37
NC_000011.8:g.6372247_6372248insCCC	NCBI36
NG_011780.1:g.9017_9018insCCC
NG_029615.1:g.29973_29974insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1730_1731insCCC MANE Select	ENSP00000340409.4:p.His577_Lys578insPro
ENST00000342245.8:c.1730_1731insCCC	ENSP00000340409.4:p.His577_Lys578insPro
ENST00000526280.1:c.787_788insCCC
ENST00000527275.5:c.1727_1728insCCC	ENSP00000435350.1:p.His576_Lys577insPro
ENST00000531303.5:c.*581_*582insCCC	ENSP00000432625.1:n.*581_*582insCCC
ENST00000533123.5:c.*457_*458insCCC	ENSP00000435950.1:n.*457_*458insCCC
ENST00000534405.5:c.*561_*562insCCC	ENSP00000434353.1:n.*561_*562insCCC
NM_000543.4:c.1730_1731insCCC	NP_000534.3:p.His577_Lys578insPro
NM_001007593.2:c.1727_1728insCCC	NP_001007594.2:p.His576_Lys577insPro
XM_005253075.3:c.*223_*224insCCC	XP_005253132.1:n.*223_*224insCCC
XM_011520303.1:c.1598_1599insCCC	XP_011518605.1:p.His533_Lys534insPro
XM_011520304.1:c.*223_*224insCCC	XP_011518606.1:n.*223_*224insCCC
NM_001318087.1:c.*223_*224insCCC	NP_001305016.1:n.*223_*224insCCC
NM_001318088.1:c.809_810insCCC	NP_001305017.1:p.His270_Lys271insPro
NM_001365135.1:c.1598_1599insCCC	NP_001352064.1:p.His533_Lys534insPro
NR_027400.2:n.1743_1744insCCC
NR_134502.1:n.1282_1283insCCC
XM_011520304.2:c.*223_*224insCCC	XP_011518606.1:n.*223_*224insCCC
XR_001747940.2:n.1915_1916insCCC
XR_002957158.1:n.2097_2098insCCC
NM_000543.5:c.1730_1731insCCC MANE Select	NP_000534.3:p.His577_Lys578insPro
NM_001007593.3:c.1727_1728insCCC	NP_001007594.2:p.His576_Lys577insPro
NM_001318087.2:c.*223_*224insCCC	NP_001305016.1:n.*223_*224insCCC
NM_001318088.2:c.809_810insCCC	NP_001305017.1:p.His270_Lys271insPro
NM_001365135.2:c.1598_1599insCCC	NP_001352064.1:p.His533_Lys534insPro
NR_027400.3:n.1683_1684insCCC
NR_134502.2:n.1222_1223insCCC