Canonical Allele Identifier: CA1950146965

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847973690

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392469_6392471dup , CM000673.2:g.6392469_6392471dup	GRCh38
NC_000011.9:g.6413699_6413701dup , CM000673.1:g.6413699_6413701dup	GRCh37
NC_000011.8:g.6370275_6370277dup	NCBI36
NG_011780.1:g.7045_7047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+313_1091+315dup MANE Select	ENSP00000340409.4:n.1091+313_1091+315dup
ENST00000342245.8:c.1091+313_1091+315dup	ENSP00000340409.4:n.1091+313_1091+315dup
ENST00000526280.1:c.320+273_320+275dup
ENST00000527275.5:c.1088+313_1088+315dup	ENSP00000435350.1:n.1088+313_1088+315dup
ENST00000531303.5:c.439-747_439-745dup	ENSP00000432625.1:n.439-747_439-745dup
ENST00000533123.5:c.1091+313_1091+315dup	ENSP00000435950.1:n.1091+313_1091+315dup
ENST00000534405.5:c.1131+273_1131+275dup	ENSP00000434353.1:n.1131+273_1131+275dup
NM_000543.4:c.1091+313_1091+315dup	NP_000534.3:n.1091+313_1091+315dup
NM_001007593.2:c.1088+313_1088+315dup	NP_001007594.2:n.1088+313_1088+315dup
XM_005253075.3:c.1091+313_1091+315dup	XP_005253132.1:n.1091+313_1091+315dup
XM_011520303.1:c.1131+273_1131+275dup	XP_011518605.1:n.1131+273_1131+275dup
XM_011520304.1:c.1131+273_1131+275dup	XP_011518606.1:n.1131+273_1131+275dup
XR_930886.1:n.1429+273_1429+275dup
NM_001318087.1:c.1091+313_1091+315dup	NP_001305016.1:n.1091+313_1091+315dup
NM_001318088.1:c.170+273_170+275dup	NP_001305017.1:n.170+273_170+275dup
NM_001365135.1:c.1131+273_1131+275dup	NP_001352064.1:n.1131+273_1131+275dup
NR_027400.2:n.1276+313_1276+315dup
NR_134502.1:n.624-747_624-745dup
XM_011520304.2:c.1131+273_1131+275dup	XP_011518606.1:n.1131+273_1131+275dup
XR_001747940.2:n.1256+273_1256+275dup
XR_002957158.1:n.1256+273_1256+275dup
NM_000543.5:c.1091+313_1091+315dup MANE Select	NP_000534.3:n.1091+313_1091+315dup
NM_001007593.3:c.1088+313_1088+315dup	NP_001007594.2:n.1088+313_1088+315dup
NM_001318087.2:c.1091+313_1091+315dup	NP_001305016.1:n.1091+313_1091+315dup
NM_001318088.2:c.170+273_170+275dup	NP_001305017.1:n.170+273_170+275dup
NM_001365135.2:c.1131+273_1131+275dup	NP_001352064.1:n.1131+273_1131+275dup
NR_027400.3:n.1216+313_1216+315dup
NR_134502.2:n.564-747_564-745dup