Canonical Allele Identifier: CA379375455

Gene: SMPD1

Linked Data

• dbSNP Id: rs1423645677
• gnomAD v2: 11-6415241-A-C
• gnomAD v3: 11-6394011-A-C
• gnomAD v4: 11-6394011-A-C
• MyVariant Identifiers: chr11:g.6415241A>C (hg19) ; chr11:g.6394011A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394011A>C , CM000673.2:g.6394011A>C	GRCh38
NC_000011.9:g.6415241A>C , CM000673.1:g.6415241A>C	GRCh37
NC_000011.8:g.6371817A>C	NCBI36
NG_011780.1:g.8587A>C
NG_029615.1:g.30404T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1456A>C MANE Select	ENSP00000340409.4:p.Ser486Arg
ENST00000342245.8:c.1456A>C	ENSP00000340409.4:p.Ser486Arg
ENST00000526280.1:c.513A>C
ENST00000527275.5:c.1453A>C	ENSP00000435350.1:p.Ser485Arg
ENST00000531303.5:c.*287A>C	ENSP00000432625.1:n.*287A>C
ENST00000531336.1:n.288A>C
ENST00000532367.1:n.292A>C
ENST00000533123.5:c.*183A>C	ENSP00000435950.1:n.*183A>C
ENST00000534405.5:c.*287A>C	ENSP00000434353.1:n.*287A>C
NM_000543.4:c.1456A>C	NP_000534.3:p.Ser486Arg
NM_001007593.2:c.1453A>C	NP_001007594.2:p.Ser485Arg
XM_005253075.3:c.1456A>C	XP_005253132.1:p.Ser486Arg
XM_011520303.1:c.1324A>C	XP_011518605.1:p.Ser442Arg
XM_011520304.1:c.1324A>C	XP_011518606.1:p.Ser442Arg
XR_930886.1:n.1794A>C
NM_001318087.1:c.1456A>C	NP_001305016.1:p.Ser486Arg
NM_001318088.1:c.535A>C	NP_001305017.1:p.Ser179Arg
NM_001365135.1:c.1324A>C	NP_001352064.1:p.Ser442Arg
NR_027400.2:n.1469A>C
NR_134502.1:n.988A>C
XM_011520304.2:c.1324A>C	XP_011518606.1:p.Ser442Arg
XR_001747940.2:n.1621A>C
XR_002957158.1:n.1823A>C
NM_000543.5:c.1456A>C MANE Select	NP_000534.3:p.Ser486Arg
NM_001007593.3:c.1453A>C	NP_001007594.2:p.Ser485Arg
NM_001318087.2:c.1456A>C	NP_001305016.1:p.Ser486Arg
NM_001318088.2:c.535A>C	NP_001305017.1:p.Ser179Arg
NM_001365135.2:c.1324A>C	NP_001352064.1:p.Ser442Arg
NR_027400.3:n.1409A>C
NR_134502.2:n.928A>C