Canonical Allele Identifier: CA275071

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 195089
• ClinVar RCV Id: RCV000175628
• dbSNP Id: rs1554934241
• gnomAD v3: 11-6391623-G-GT
• gnomAD v4: 11-6391623-G-GT
• MyVariant Identifiers: chr11:g.6412853_6412854insT (hg19) ; chr11:g.6391623_6391624insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391623_6391624insT , CM000673.2:g.6391623_6391624insT	GRCh38
NC_000011.9:g.6412853_6412854insT , CM000673.1:g.6412853_6412854insT	GRCh37
NC_000011.8:g.6369429_6369430insT	NCBI36
NG_011780.1:g.6199_6200insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.558_559insT MANE Select	ENSP00000340409.4:p.Pro187SerfsTer6
ENST00000342245.8:c.558_559insT	ENSP00000340409.4:p.Pro187SerfsTer6
ENST00000527275.5:c.555_556insT	ENSP00000435350.1:p.Pro186SerfsTer6
ENST00000530395.1:c.-95-167_-95-166insT	ENSP00000431479.1:n.-95-167_-95-166insT
ENST00000531303.5:c.438+120_438+121insT	ENSP00000432625.1:n.438+120_438+121insT
ENST00000533123.5:c.558_559insT	ENSP00000435950.1:p.Pro187SerfsTer6
ENST00000533196.1:n.375-383_375-382insT
ENST00000534405.5:c.558_559insT	ENSP00000434353.1:p.Pro187SerfsTer6
NM_000543.4:c.558_559insT	NP_000534.3:p.Pro187SerfsTer6
NM_001007593.2:c.555_556insT	NP_001007594.2:p.Pro186SerfsTer6
XM_005253075.3:c.558_559insT	XP_005253132.1:p.Pro187SerfsTer6
XM_011520303.1:c.558_559insT	XP_011518605.1:p.Pro187SerfsTer6
XM_011520304.1:c.558_559insT	XP_011518606.1:p.Pro187SerfsTer6
XR_930886.1:n.856_857insT
NM_001318087.1:c.558_559insT	NP_001305016.1:p.Pro187SerfsTer6
NM_001318088.1:c.-404_-403insT	NP_001305017.1:n.-404_-403insT
NM_001365135.1:c.558_559insT	NP_001352064.1:p.Pro187SerfsTer6
NR_027400.2:n.743_744insT
NR_134502.1:n.623+120_623+121insT
XM_011520304.2:c.558_559insT	XP_011518606.1:p.Pro187SerfsTer6
XR_001747940.2:n.683_684insT
XR_002957158.1:n.683_684insT
NM_000543.5:c.558_559insT MANE Select	NP_000534.3:p.Pro187SerfsTer6
NM_001007593.3:c.555_556insT	NP_001007594.2:p.Pro186SerfsTer6
NM_001318087.2:c.558_559insT	NP_001305016.1:p.Pro187SerfsTer6
NM_001318088.2:c.-404_-403insT	NP_001305017.1:n.-404_-403insT
NM_001365135.2:c.558_559insT	NP_001352064.1:p.Pro187SerfsTer6
NR_027400.3:n.683_684insT
NR_134502.2:n.563+120_563+121insT