Canonical Allele Identifier: CA1139661801

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 992675
• ClinVar RCV Id: RCV001281391
• dbSNP Id: rs1847857299

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390655_6390658dup , CM000673.2:g.6390655_6390658dup	GRCh38
NC_000011.9:g.6411885_6411888dup , CM000673.1:g.6411885_6411888dup	GRCh37
NC_000011.8:g.6368461_6368464dup	NCBI36
NG_011780.1:g.5231_5234dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.57_60dup MANE Select	ENSP00000340409.4:p.Gln21GlyfsTer?
ENST00000342245.8:c.57_60dup	ENSP00000340409.4:p.Gln21GlyfsTer?
ENST00000527275.5:c.57_60dup	ENSP00000435350.1:p.Gln21GlyfsTer?
ENST00000530395.1:c.-96+16_-96+19dup	ENSP00000431479.1:n.-96+16_-96+19dup
ENST00000531303.5:c.57_60dup	ENSP00000432625.1:p.Gln21GlyfsTer?
ENST00000533123.5:c.57_60dup	ENSP00000435950.1:p.Gln21GlyfsTer?
ENST00000533196.1:n.216_219dup
ENST00000534405.5:c.57_60dup	ENSP00000434353.1:p.Gln21GlyfsTer?
NM_000543.4:c.57_60dup	NP_000534.3:p.Gln21GlyfsTer?
NM_001007593.2:c.57_60dup	NP_001007594.2:p.Gln21GlyfsTer?
XM_005253075.3:c.57_60dup	XP_005253132.1:p.Gln21GlyfsTer?
XM_011520303.1:c.57_60dup	XP_011518605.1:p.Gln21GlyfsTer?
XM_011520304.1:c.57_60dup	XP_011518606.1:p.Gln21GlyfsTer?
XR_930886.1:n.355_358dup
NM_001318087.1:c.57_60dup	NP_001305016.1:p.Gln21GlyfsTer?
NM_001318088.1:c.-905_-902dup	NP_001305017.1:n.-905_-902dup
NM_001365135.1:c.57_60dup	NP_001352064.1:p.Gln21GlyfsTer?
NR_027400.2:n.242_245dup
NR_134502.1:n.242_245dup
XM_011520304.2:c.57_60dup	XP_011518606.1:p.Gln21GlyfsTer?
XR_001747940.2:n.182_185dup
XR_002957158.1:n.182_185dup
NM_000543.5:c.57_60dup MANE Select	NP_000534.3:p.Gln21GlyfsTer?
NM_001007593.3:c.57_60dup	NP_001007594.2:p.Gln21GlyfsTer?
NM_001318087.2:c.57_60dup	NP_001305016.1:p.Gln21GlyfsTer?
NM_001318088.2:c.-905_-902dup	NP_001305017.1:n.-905_-902dup
NM_001365135.2:c.57_60dup	NP_001352064.1:p.Gln21GlyfsTer?
NR_027400.3:n.182_185dup
NR_134502.2:n.182_185dup