Canonical Allele Identifier: CA2612222487

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392300-T-TTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392301_6392303dup , CM000673.2:g.6392301_6392303dup	GRCh38
NC_000011.9:g.6413531_6413533dup , CM000673.1:g.6413531_6413533dup	GRCh37
NC_000011.8:g.6370107_6370109dup	NCBI36
NG_011780.1:g.6877_6879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+145_1091+147dup MANE Select	ENSP00000340409.4:n.1091+145_1091+147dup
ENST00000342245.8:c.1091+145_1091+147dup	ENSP00000340409.4:n.1091+145_1091+147dup
ENST00000526280.1:c.320+105_320+107dup
ENST00000527275.5:c.1088+145_1088+147dup	ENSP00000435350.1:n.1088+145_1088+147dup
ENST00000531303.5:c.438+798_438+800dup	ENSP00000432625.1:n.438+798_438+800dup
ENST00000533123.5:c.1091+145_1091+147dup	ENSP00000435950.1:n.1091+145_1091+147dup
ENST00000534405.5:c.1131+105_1131+107dup	ENSP00000434353.1:n.1131+105_1131+107dup
NM_000543.4:c.1091+145_1091+147dup	NP_000534.3:n.1091+145_1091+147dup
NM_001007593.2:c.1088+145_1088+147dup	NP_001007594.2:n.1088+145_1088+147dup
XM_005253075.3:c.1091+145_1091+147dup	XP_005253132.1:n.1091+145_1091+147dup
XM_011520303.1:c.1131+105_1131+107dup	XP_011518605.1:n.1131+105_1131+107dup
XM_011520304.1:c.1131+105_1131+107dup	XP_011518606.1:n.1131+105_1131+107dup
XR_930886.1:n.1429+105_1429+107dup
NM_001318087.1:c.1091+145_1091+147dup	NP_001305016.1:n.1091+145_1091+147dup
NM_001318088.1:c.170+105_170+107dup	NP_001305017.1:n.170+105_170+107dup
NM_001365135.1:c.1131+105_1131+107dup	NP_001352064.1:n.1131+105_1131+107dup
NR_027400.2:n.1276+145_1276+147dup
NR_134502.1:n.623+798_623+800dup
XM_011520304.2:c.1131+105_1131+107dup	XP_011518606.1:n.1131+105_1131+107dup
XR_001747940.2:n.1256+105_1256+107dup
XR_002957158.1:n.1256+105_1256+107dup
NM_000543.5:c.1091+145_1091+147dup MANE Select	NP_000534.3:n.1091+145_1091+147dup
NM_001007593.3:c.1088+145_1088+147dup	NP_001007594.2:n.1088+145_1088+147dup
NM_001318087.2:c.1091+145_1091+147dup	NP_001305016.1:n.1091+145_1091+147dup
NM_001318088.2:c.170+105_170+107dup	NP_001305017.1:n.170+105_170+107dup
NM_001365135.2:c.1131+105_1131+107dup	NP_001352064.1:n.1131+105_1131+107dup
NR_027400.3:n.1216+145_1216+147dup
NR_134502.2:n.563+798_563+800dup