Canonical Allele Identifier: CA2573147173

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1459672
• ClinVar RCV Id: RCV001980230
• dbSNP Id: rs2134010245
• gnomAD v4: 11-6391638-T-TAGCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391645_6391652dup , CM000673.2:g.6391645_6391652dup	GRCh38
NC_000011.9:g.6412875_6412882dup , CM000673.1:g.6412875_6412882dup	GRCh37
NC_000011.8:g.6369451_6369458dup	NCBI36
NG_011780.1:g.6221_6228dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.580_587dup MANE Select	ENSP00000340409.4:p.Gly197GlnfsTer?
ENST00000342245.8:c.580_587dup	ENSP00000340409.4:p.Gly197GlnfsTer?
ENST00000527275.5:c.577_584dup	ENSP00000435350.1:p.Gly196GlnfsTer?
ENST00000530395.1:c.-95-145_-95-138dup	ENSP00000431479.1:n.-95-145_-95-138dup
ENST00000531303.5:c.438+142_438+149dup	ENSP00000432625.1:n.438+142_438+149dup
ENST00000533123.5:c.580_587dup	ENSP00000435950.1:p.Gly197GlnfsTer?
ENST00000533196.1:n.375-361_375-354dup
ENST00000534405.5:c.580_587dup	ENSP00000434353.1:p.Gly197GlnfsTer?
NM_000543.4:c.580_587dup	NP_000534.3:p.Gly197GlnfsTer?
NM_001007593.2:c.577_584dup	NP_001007594.2:p.Gly196GlnfsTer?
XM_005253075.3:c.580_587dup	XP_005253132.1:p.Gly197GlnfsTer?
XM_011520303.1:c.580_587dup	XP_011518605.1:p.Gly197GlnfsTer?
XM_011520304.1:c.580_587dup	XP_011518606.1:p.Gly197GlnfsTer?
XR_930886.1:n.878_885dup
NM_001318087.1:c.580_587dup	NP_001305016.1:p.Gly197GlnfsTer?
NM_001318088.1:c.-382_-375dup	NP_001305017.1:n.-382_-375dup
NM_001365135.1:c.580_587dup	NP_001352064.1:p.Gly197GlnfsTer?
NR_027400.2:n.765_772dup
NR_134502.1:n.623+142_623+149dup
XM_011520304.2:c.580_587dup	XP_011518606.1:p.Gly197GlnfsTer?
XR_001747940.2:n.705_712dup
XR_002957158.1:n.705_712dup
NM_000543.5:c.580_587dup MANE Select	NP_000534.3:p.Gly197GlnfsTer?
NM_001007593.3:c.577_584dup	NP_001007594.2:p.Gly196GlnfsTer?
NM_001318087.2:c.580_587dup	NP_001305016.1:p.Gly197GlnfsTer?
NM_001318088.2:c.-382_-375dup	NP_001305017.1:n.-382_-375dup
NM_001365135.2:c.580_587dup	NP_001352064.1:p.Gly197GlnfsTer?
NR_027400.3:n.705_712dup
NR_134502.2:n.563+142_563+149dup