Canonical Allele Identifier: CA379375737

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415431A>G (hg19) ; chr11:g.6394201A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394201A>G , CM000673.2:g.6394201A>G	GRCh38
NC_000011.9:g.6415431A>G , CM000673.1:g.6415431A>G	GRCh37
NC_000011.8:g.6372007A>G	NCBI36
NG_011780.1:g.8777A>G
NG_029615.1:g.30214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1490A>G MANE Select	ENSP00000340409.4:p.Tyr497Cys
ENST00000342245.8:c.1490A>G	ENSP00000340409.4:p.Tyr497Cys
ENST00000526280.1:c.547A>G
ENST00000527275.5:c.1487A>G	ENSP00000435350.1:p.Tyr496Cys
ENST00000531303.5:c.*341A>G	ENSP00000432625.1:n.*341A>G
ENST00000531336.1:n.478A>G
ENST00000533123.5:c.*217A>G	ENSP00000435950.1:n.*217A>G
ENST00000534405.5:c.*321A>G	ENSP00000434353.1:n.*321A>G
NM_000543.4:c.1490A>G	NP_000534.3:p.Tyr497Cys
NM_001007593.2:c.1487A>G	NP_001007594.2:p.Tyr496Cys
XM_005253075.3:c.1510A>G	XP_005253132.1:p.Thr504Ala
XM_011520303.1:c.1358A>G	XP_011518605.1:p.Tyr453Cys
XM_011520304.1:c.1378A>G	XP_011518606.1:p.Thr460Ala
NM_001318087.1:c.1510A>G	NP_001305016.1:p.Thr504Ala
NM_001318088.1:c.569A>G	NP_001305017.1:p.Tyr190Cys
NM_001365135.1:c.1358A>G	NP_001352064.1:p.Tyr453Cys
NR_027400.2:n.1503A>G
NR_134502.1:n.1042A>G
XM_011520304.2:c.1378A>G	XP_011518606.1:p.Thr460Ala
XR_001747940.2:n.1675A>G
XR_002957158.1:n.1857A>G
NM_000543.5:c.1490A>G MANE Select	NP_000534.3:p.Tyr497Cys
NM_001007593.3:c.1487A>G	NP_001007594.2:p.Tyr496Cys
NM_001318087.2:c.1510A>G	NP_001305016.1:p.Thr504Ala
NM_001318088.2:c.569A>G	NP_001305017.1:p.Tyr190Cys
NM_001365135.2:c.1358A>G	NP_001352064.1:p.Tyr453Cys
NR_027400.3:n.1443A>G
NR_134502.2:n.982A>G