Canonical Allele Identifier: CA379367464

Gene: SMPD1

Linked Data

• dbSNP Id: rs1249315685
• gnomAD v2: 11-6411968-T-A
• gnomAD v4: 11-6390738-T-A
• MyVariant Identifiers: chr11:g.6411968T>A (hg19) ; chr11:g.6390738T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390738T>A , CM000673.2:g.6390738T>A	GRCh38
NC_000011.9:g.6411968T>A , CM000673.1:g.6411968T>A	GRCh37
NC_000011.8:g.6368544T>A	NCBI36
NG_011780.1:g.5314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.140T>A MANE Select	ENSP00000340409.4:p.Leu47Gln
ENST00000342245.8:c.140T>A	ENSP00000340409.4:p.Leu47Gln
ENST00000527275.5:c.140T>A	ENSP00000435350.1:p.Leu47Gln
ENST00000530395.1:c.-96+99T>A	ENSP00000431479.1:n.-96+99T>A
ENST00000531303.5:c.140T>A	ENSP00000432625.1:p.Leu47Gln
ENST00000533123.5:c.140T>A	ENSP00000435950.1:p.Leu47Gln
ENST00000533196.1:n.299T>A
ENST00000534405.5:c.140T>A	ENSP00000434353.1:p.Leu47Gln
NM_000543.4:c.140T>A	NP_000534.3:p.Leu47Gln
NM_001007593.2:c.140T>A	NP_001007594.2:p.Leu47Gln
XM_005253075.3:c.140T>A	XP_005253132.1:p.Leu47Gln
XM_011520303.1:c.140T>A	XP_011518605.1:p.Leu47Gln
XM_011520304.1:c.140T>A	XP_011518606.1:p.Leu47Gln
XR_930886.1:n.438T>A
NM_001318087.1:c.140T>A	NP_001305016.1:p.Leu47Gln
NM_001318088.1:c.-822T>A	NP_001305017.1:n.-822T>A
NM_001365135.1:c.140T>A	NP_001352064.1:p.Leu47Gln
NR_027400.2:n.325T>A
NR_134502.1:n.325T>A
XM_011520304.2:c.140T>A	XP_011518606.1:p.Leu47Gln
XR_001747940.2:n.265T>A
XR_002957158.1:n.265T>A
NM_000543.5:c.140T>A MANE Select	NP_000534.3:p.Leu47Gln
NM_001007593.3:c.140T>A	NP_001007594.2:p.Leu47Gln
NM_001318087.2:c.140T>A	NP_001305016.1:p.Leu47Gln
NM_001318088.2:c.-822T>A	NP_001305017.1:n.-822T>A
NM_001365135.2:c.140T>A	NP_001352064.1:p.Leu47Gln
NR_027400.3:n.265T>A
NR_134502.2:n.265T>A