Canonical Allele Identifier: CA934768162

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392486-C-CTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 11-6392486-C-CTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392490_6392515dup , CM000673.2:g.6392490_6392515dup	GRCh38
NC_000011.9:g.6413720_6413745dup , CM000673.1:g.6413720_6413745dup	GRCh37
NC_000011.8:g.6370296_6370321dup	NCBI36
NG_011780.1:g.7066_7091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+334_1091+359dup MANE Select	ENSP00000340409.4:n.1091+334_1091+359dup
ENST00000342245.8:c.1091+334_1091+359dup	ENSP00000340409.4:n.1091+334_1091+359dup
ENST00000526280.1:c.320+294_320+319dup
ENST00000527275.5:c.1088+334_1088+359dup	ENSP00000435350.1:n.1088+334_1088+359dup
ENST00000531303.5:c.439-726_439-701dup	ENSP00000432625.1:n.439-726_439-701dup
ENST00000533123.5:c.1091+334_1091+359dup	ENSP00000435950.1:n.1091+334_1091+359dup
ENST00000534405.5:c.1131+294_1131+319dup	ENSP00000434353.1:n.1131+294_1131+319dup
NM_000543.4:c.1091+334_1091+359dup	NP_000534.3:n.1091+334_1091+359dup
NM_001007593.2:c.1088+334_1088+359dup	NP_001007594.2:n.1088+334_1088+359dup
XM_005253075.3:c.1091+334_1091+359dup	XP_005253132.1:n.1091+334_1091+359dup
XM_011520303.1:c.1131+294_1131+319dup	XP_011518605.1:n.1131+294_1131+319dup
XM_011520304.1:c.1131+294_1131+319dup	XP_011518606.1:n.1131+294_1131+319dup
XR_930886.1:n.1429+294_1429+319dup
NM_001318087.1:c.1091+334_1091+359dup	NP_001305016.1:n.1091+334_1091+359dup
NM_001318088.1:c.170+294_170+319dup	NP_001305017.1:n.170+294_170+319dup
NM_001365135.1:c.1131+294_1131+319dup	NP_001352064.1:n.1131+294_1131+319dup
NR_027400.2:n.1276+334_1276+359dup
NR_134502.1:n.624-726_624-701dup
XM_011520304.2:c.1131+294_1131+319dup	XP_011518606.1:n.1131+294_1131+319dup
XR_001747940.2:n.1256+294_1256+319dup
XR_002957158.1:n.1256+294_1256+319dup
NM_000543.5:c.1091+334_1091+359dup MANE Select	NP_000534.3:n.1091+334_1091+359dup
NM_001007593.3:c.1088+334_1088+359dup	NP_001007594.2:n.1088+334_1088+359dup
NM_001318087.2:c.1091+334_1091+359dup	NP_001305016.1:n.1091+334_1091+359dup
NM_001318088.2:c.170+294_170+319dup	NP_001305017.1:n.170+294_170+319dup
NM_001365135.2:c.1131+294_1131+319dup	NP_001352064.1:n.1131+294_1131+319dup
NR_027400.3:n.1216+334_1216+359dup
NR_134502.2:n.564-726_564-701dup