Canonical Allele Identifier: CA934767338

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847943743
• gnomAD v3: 11-6391992-G-GGGGCCA
• gnomAD v4: 11-6391992-G-GGGGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391994_6391999dup , CM000673.2:g.6391994_6391999dup	GRCh38
NC_000011.9:g.6413224_6413229dup , CM000673.1:g.6413224_6413229dup	GRCh37
NC_000011.8:g.6369800_6369805dup	NCBI36
NG_011780.1:g.6570_6575dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.929_934dup MANE Select	ENSP00000340409.4:p.Pro311_Val312insGlyPr...
ENST00000342245.8:c.929_934dup	ENSP00000340409.4:p.Pro311_Val312insGlyPr...
ENST00000526280.1:c.118_123dup
ENST00000527275.5:c.926_931dup	ENSP00000435350.1:p.Pro310_Val311insGlyPr...
ENST00000530395.1:c.110_115dup	ENSP00000431479.1:p.Pro38_Val39insGlyPro
ENST00000531303.5:c.438+491_438+496dup	ENSP00000432625.1:n.438+491_438+496dup
ENST00000533123.5:c.929_934dup	ENSP00000435950.1:p.Pro311_Val312insGlyPr...
ENST00000533196.1:n.375-12_375-7dup
ENST00000534405.5:c.929_934dup	ENSP00000434353.1:p.Pro311_Val312insGlyPr...
NM_000543.4:c.929_934dup	NP_000534.3:p.Pro311_Val312insGlyPro
NM_001007593.2:c.926_931dup	NP_001007594.2:p.Pro310_Val311insGlyPro
XM_005253075.3:c.929_934dup	XP_005253132.1:p.Pro311_Val312insGlyPro
XM_011520303.1:c.929_934dup	XP_011518605.1:p.Pro311_Val312insGlyPro
XM_011520304.1:c.929_934dup	XP_011518606.1:p.Pro311_Val312insGlyPro
XR_930886.1:n.1227_1232dup
NM_001318087.1:c.929_934dup	NP_001305016.1:p.Pro311_Val312insGlyPro
NM_001318088.1:c.-33_-28dup	NP_001305017.1:n.-33_-28dup
NM_001365135.1:c.929_934dup	NP_001352064.1:p.Pro311_Val312insGlyPro
NR_027400.2:n.1114_1119dup
NR_134502.1:n.623+491_623+496dup
XM_011520304.2:c.929_934dup	XP_011518606.1:p.Pro311_Val312insGlyPro
XR_001747940.2:n.1054_1059dup
XR_002957158.1:n.1054_1059dup
NM_000543.5:c.929_934dup MANE Select	NP_000534.3:p.Pro311_Val312insGlyPro
NM_001007593.3:c.926_931dup	NP_001007594.2:p.Pro310_Val311insGlyPro
NM_001318087.2:c.929_934dup	NP_001305016.1:p.Pro311_Val312insGlyPro
NM_001318088.2:c.-33_-28dup	NP_001305017.1:n.-33_-28dup
NM_001365135.2:c.929_934dup	NP_001352064.1:p.Pro311_Val312insGlyPro
NR_027400.3:n.1054_1059dup
NR_134502.2:n.563+491_563+496dup