Canonical Allele Identifier: CA597263879

Gene: SMPD1

Linked Data

• dbSNP Id: rs1484033993
• gnomAD v2: 11-6413715-C-CT
• gnomAD v3: 11-6392485-C-CT
• gnomAD v4: 11-6392485-C-CT
• MyVariant Identifiers: chr11:g.6413715_6413716insT (hg19) ; chr11:g.6392485_6392486insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392485_6392486insT , CM000673.2:g.6392485_6392486insT	GRCh38
NC_000011.9:g.6413715_6413716insT , CM000673.1:g.6413715_6413716insT	GRCh37
NC_000011.8:g.6370291_6370292insT	NCBI36
NG_011780.1:g.7061_7062insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+329_1091+330insT MANE Select	ENSP00000340409.4:n.1091+329_1091+330insT
ENST00000342245.8:c.1091+329_1091+330insT	ENSP00000340409.4:n.1091+329_1091+330insT
ENST00000526280.1:c.320+289_320+290insT
ENST00000527275.5:c.1088+329_1088+330insT	ENSP00000435350.1:n.1088+329_1088+330insT
ENST00000531303.5:c.439-731_439-730insT	ENSP00000432625.1:n.439-731_439-730insT
ENST00000533123.5:c.1091+329_1091+330insT	ENSP00000435950.1:n.1091+329_1091+330insT
ENST00000534405.5:c.1131+289_1131+290insT	ENSP00000434353.1:n.1131+289_1131+290insT
NM_000543.4:c.1091+329_1091+330insT	NP_000534.3:n.1091+329_1091+330insT
NM_001007593.2:c.1088+329_1088+330insT	NP_001007594.2:n.1088+329_1088+330insT
XM_005253075.3:c.1091+329_1091+330insT	XP_005253132.1:n.1091+329_1091+330insT
XM_011520303.1:c.1131+289_1131+290insT	XP_011518605.1:n.1131+289_1131+290insT
XM_011520304.1:c.1131+289_1131+290insT	XP_011518606.1:n.1131+289_1131+290insT
XR_930886.1:n.1429+289_1429+290insT
NM_001318087.1:c.1091+329_1091+330insT	NP_001305016.1:n.1091+329_1091+330insT
NM_001318088.1:c.170+289_170+290insT	NP_001305017.1:n.170+289_170+290insT
NM_001365135.1:c.1131+289_1131+290insT	NP_001352064.1:n.1131+289_1131+290insT
NR_027400.2:n.1276+329_1276+330insT
NR_134502.1:n.624-731_624-730insT
XM_011520304.2:c.1131+289_1131+290insT	XP_011518606.1:n.1131+289_1131+290insT
XR_001747940.2:n.1256+289_1256+290insT
XR_002957158.1:n.1256+289_1256+290insT
NM_000543.5:c.1091+329_1091+330insT MANE Select	NP_000534.3:n.1091+329_1091+330insT
NM_001007593.3:c.1088+329_1088+330insT	NP_001007594.2:n.1088+329_1088+330insT
NM_001318087.2:c.1091+329_1091+330insT	NP_001305016.1:n.1091+329_1091+330insT
NM_001318088.2:c.170+289_170+290insT	NP_001305017.1:n.170+289_170+290insT
NM_001365135.2:c.1131+289_1131+290insT	NP_001352064.1:n.1131+289_1131+290insT
NR_027400.3:n.1216+329_1216+330insT
NR_134502.2:n.564-731_564-730insT