Canonical Allele Identifier: CA379376805

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415641A>G (hg19) ; chr11:g.6394411A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394411A>G , CM000673.2:g.6394411A>G	GRCh38
NC_000011.9:g.6415641A>G , CM000673.1:g.6415641A>G	GRCh37
NC_000011.8:g.6372217A>G	NCBI36
NG_011780.1:g.8987A>G
NG_029615.1:g.30004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1700A>G MANE Select	ENSP00000340409.4:p.Gln567Arg
ENST00000342245.8:c.1700A>G	ENSP00000340409.4:p.Gln567Arg
ENST00000526280.1:c.757A>G
ENST00000527275.5:c.1697A>G	ENSP00000435350.1:p.Gln566Arg
ENST00000531303.5:c.*551A>G	ENSP00000432625.1:n.*551A>G
ENST00000533123.5:c.*427A>G	ENSP00000435950.1:n.*427A>G
ENST00000534405.5:c.*531A>G	ENSP00000434353.1:n.*531A>G
NM_000543.4:c.1700A>G	NP_000534.3:p.Gln567Arg
NM_001007593.2:c.1697A>G	NP_001007594.2:p.Gln566Arg
XM_005253075.3:c.*193A>G	XP_005253132.1:n.*193A>G
XM_011520303.1:c.1568A>G	XP_011518605.1:p.Gln523Arg
XM_011520304.1:c.*193A>G	XP_011518606.1:n.*193A>G
NM_001318087.1:c.*193A>G	NP_001305016.1:n.*193A>G
NM_001318088.1:c.779A>G	NP_001305017.1:p.Gln260Arg
NM_001365135.1:c.1568A>G	NP_001352064.1:p.Gln523Arg
NR_027400.2:n.1713A>G
NR_134502.1:n.1252A>G
XM_011520304.2:c.*193A>G	XP_011518606.1:n.*193A>G
XR_001747940.2:n.1885A>G
XR_002957158.1:n.2067A>G
NM_000543.5:c.1700A>G MANE Select	NP_000534.3:p.Gln567Arg
NM_001007593.3:c.1697A>G	NP_001007594.2:p.Gln566Arg
NM_001318087.2:c.*193A>G	NP_001305016.1:n.*193A>G
NM_001318088.2:c.779A>G	NP_001305017.1:p.Gln260Arg
NM_001365135.2:c.1568A>G	NP_001352064.1:p.Gln523Arg
NR_027400.3:n.1653A>G
NR_134502.2:n.1192A>G