Canonical Allele Identifier: CA379375873

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394221-G-C
• MyVariant Identifiers: chr11:g.6415451G>C (hg19) ; chr11:g.6394221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394221G>C , CM000673.2:g.6394221G>C	GRCh38
NC_000011.9:g.6415451G>C , CM000673.1:g.6415451G>C	GRCh37
NC_000011.8:g.6372027G>C	NCBI36
NG_011780.1:g.8797G>C
NG_029615.1:g.30194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1510G>C MANE Select	ENSP00000340409.4:p.Gly504Arg
ENST00000342245.8:c.1510G>C	ENSP00000340409.4:p.Gly504Arg
ENST00000526280.1:c.567G>C
ENST00000527275.5:c.1507G>C	ENSP00000435350.1:p.Gly503Arg
ENST00000531303.5:c.*361G>C	ENSP00000432625.1:n.*361G>C
ENST00000531336.1:n.498G>C
ENST00000533123.5:c.*237G>C	ENSP00000435950.1:n.*237G>C
ENST00000534405.5:c.*341G>C	ENSP00000434353.1:n.*341G>C
NM_000543.4:c.1510G>C	NP_000534.3:p.Gly504Arg
NM_001007593.2:c.1507G>C	NP_001007594.2:p.Gly503Arg
XM_005253075.3:c.*3G>C	XP_005253132.1:n.*3G>C
XM_011520303.1:c.1378G>C	XP_011518605.1:p.Gly460Arg
XM_011520304.1:c.*3G>C	XP_011518606.1:n.*3G>C
NM_001318087.1:c.*3G>C	NP_001305016.1:n.*3G>C
NM_001318088.1:c.589G>C	NP_001305017.1:p.Gly197Arg
NM_001365135.1:c.1378G>C	NP_001352064.1:p.Gly460Arg
NR_027400.2:n.1523G>C
NR_134502.1:n.1062G>C
XM_011520304.2:c.*3G>C	XP_011518606.1:n.*3G>C
XR_001747940.2:n.1695G>C
XR_002957158.1:n.1877G>C
NM_000543.5:c.1510G>C MANE Select	NP_000534.3:p.Gly504Arg
NM_001007593.3:c.1507G>C	NP_001007594.2:p.Gly503Arg
NM_001318087.2:c.*3G>C	NP_001305016.1:n.*3G>C
NM_001318088.2:c.589G>C	NP_001305017.1:p.Gly197Arg
NM_001365135.2:c.1378G>C	NP_001352064.1:p.Gly460Arg
NR_027400.3:n.1463G>C
NR_134502.2:n.1002G>C