Canonical Allele Identifier: CA2723273350

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134014812

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392502_6392503insCT , CM000673.2:g.6392502_6392503insCT	GRCh38
NC_000011.9:g.6413732_6413733insCT , CM000673.1:g.6413732_6413733insCT	GRCh37
NC_000011.8:g.6370308_6370309insCT	NCBI36
NG_011780.1:g.7078_7079insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+346_1091+347insCT MANE Select	ENSP00000340409.4:n.1091+346_1091+347insCT
ENST00000342245.8:c.1091+346_1091+347insCT	ENSP00000340409.4:n.1091+346_1091+347insCT
ENST00000526280.1:c.320+306_320+307insCT
ENST00000527275.5:c.1088+346_1088+347insCT	ENSP00000435350.1:n.1088+346_1088+347insCT
ENST00000531303.5:c.439-714_439-713insCT	ENSP00000432625.1:n.439-714_439-713insCT
ENST00000533123.5:c.1091+346_1091+347insCT	ENSP00000435950.1:n.1091+346_1091+347insCT
ENST00000534405.5:c.1131+306_1131+307insCT	ENSP00000434353.1:n.1131+306_1131+307insCT
NM_000543.4:c.1091+346_1091+347insCT	NP_000534.3:n.1091+346_1091+347insCT
NM_001007593.2:c.1088+346_1088+347insCT	NP_001007594.2:n.1088+346_1088+347insCT
XM_005253075.3:c.1091+346_1091+347insCT	XP_005253132.1:n.1091+346_1091+347insCT
XM_011520303.1:c.1131+306_1131+307insCT	XP_011518605.1:n.1131+306_1131+307insCT
XM_011520304.1:c.1131+306_1131+307insCT	XP_011518606.1:n.1131+306_1131+307insCT
XR_930886.1:n.1429+306_1429+307insCT
NM_001318087.1:c.1091+346_1091+347insCT	NP_001305016.1:n.1091+346_1091+347insCT
NM_001318088.1:c.170+306_170+307insCT	NP_001305017.1:n.170+306_170+307insCT
NM_001365135.1:c.1131+306_1131+307insCT	NP_001352064.1:n.1131+306_1131+307insCT
NR_027400.2:n.1276+346_1276+347insCT
NR_134502.1:n.624-714_624-713insCT
XM_011520304.2:c.1131+306_1131+307insCT	XP_011518606.1:n.1131+306_1131+307insCT
XR_001747940.2:n.1256+306_1256+307insCT
XR_002957158.1:n.1256+306_1256+307insCT
NM_000543.5:c.1091+346_1091+347insCT MANE Select	NP_000534.3:n.1091+346_1091+347insCT
NM_001007593.3:c.1088+346_1088+347insCT	NP_001007594.2:n.1088+346_1088+347insCT
NM_001318087.2:c.1091+346_1091+347insCT	NP_001305016.1:n.1091+346_1091+347insCT
NM_001318088.2:c.170+306_170+307insCT	NP_001305017.1:n.170+306_170+307insCT
NM_001365135.2:c.1131+306_1131+307insCT	NP_001352064.1:n.1131+306_1131+307insCT
NR_027400.3:n.1216+346_1216+347insCT
NR_134502.2:n.564-714_564-713insCT