Canonical Allele Identifier: CA379376174

Gene: SMPD1

Linked Data

• dbSNP Id: rs1442752708
• gnomAD v2: 11-6415492-G-C
• gnomAD v4: 11-6394262-G-C
• MyVariant Identifiers: chr11:g.6415492G>C (hg19) ; chr11:g.6394262G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394262G>C , CM000673.2:g.6394262G>C	GRCh38
NC_000011.9:g.6415492G>C , CM000673.1:g.6415492G>C	GRCh37
NC_000011.8:g.6372068G>C	NCBI36
NG_011780.1:g.8838G>C
NG_029615.1:g.30153C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1551G>C MANE Select	ENSP00000340409.4:p.Glu517Asp
ENST00000342245.8:c.1551G>C	ENSP00000340409.4:p.Glu517Asp
ENST00000526280.1:c.608G>C
ENST00000527275.5:c.1548G>C	ENSP00000435350.1:p.Glu516Asp
ENST00000531303.5:c.*402G>C	ENSP00000432625.1:n.*402G>C
ENST00000531336.1:n.539G>C
ENST00000533123.5:c.*278G>C	ENSP00000435950.1:n.*278G>C
ENST00000534405.5:c.*382G>C	ENSP00000434353.1:n.*382G>C
NM_000543.4:c.1551G>C	NP_000534.3:p.Glu517Asp
NM_001007593.2:c.1548G>C	NP_001007594.2:p.Glu516Asp
XM_005253075.3:c.*44G>C	XP_005253132.1:n.*44G>C
XM_011520303.1:c.1419G>C	XP_011518605.1:p.Glu473Asp
XM_011520304.1:c.*44G>C	XP_011518606.1:n.*44G>C
NM_001318087.1:c.*44G>C	NP_001305016.1:n.*44G>C
NM_001318088.1:c.630G>C	NP_001305017.1:p.Glu210Asp
NM_001365135.1:c.1419G>C	NP_001352064.1:p.Glu473Asp
NR_027400.2:n.1564G>C
NR_134502.1:n.1103G>C
XM_011520304.2:c.*44G>C	XP_011518606.1:n.*44G>C
XR_001747940.2:n.1736G>C
XR_002957158.1:n.1918G>C
NM_000543.5:c.1551G>C MANE Select	NP_000534.3:p.Glu517Asp
NM_001007593.3:c.1548G>C	NP_001007594.2:p.Glu516Asp
NM_001318087.2:c.*44G>C	NP_001305016.1:n.*44G>C
NM_001318088.2:c.630G>C	NP_001305017.1:p.Glu210Asp
NM_001365135.2:c.1419G>C	NP_001352064.1:p.Glu473Asp
NR_027400.3:n.1504G>C
NR_134502.2:n.1043G>C