Canonical Allele Identifier: CA379375537

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415254A>C (hg19) ; chr11:g.6394024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394024A>C , CM000673.2:g.6394024A>C	GRCh38
NC_000011.9:g.6415254A>C , CM000673.1:g.6415254A>C	GRCh37
NC_000011.8:g.6371830A>C	NCBI36
NG_011780.1:g.8600A>C
NG_029615.1:g.30391T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1469A>C MANE Select	ENSP00000340409.4:p.Tyr490Ser
ENST00000342245.8:c.1469A>C	ENSP00000340409.4:p.Tyr490Ser
ENST00000526280.1:c.526A>C
ENST00000527275.5:c.1466A>C	ENSP00000435350.1:p.Tyr489Ser
ENST00000531303.5:c.*300A>C	ENSP00000432625.1:n.*300A>C
ENST00000531336.1:n.301A>C
ENST00000532367.1:n.305A>C
ENST00000533123.5:c.*196A>C	ENSP00000435950.1:n.*196A>C
ENST00000534405.5:c.*300A>C	ENSP00000434353.1:n.*300A>C
NM_000543.4:c.1469A>C	NP_000534.3:p.Tyr490Ser
NM_001007593.2:c.1466A>C	NP_001007594.2:p.Tyr489Ser
XM_005253075.3:c.1469A>C	XP_005253132.1:p.Tyr490Ser
XM_011520303.1:c.1337A>C	XP_011518605.1:p.Tyr446Ser
XM_011520304.1:c.1337A>C	XP_011518606.1:p.Tyr446Ser
XR_930886.1:n.1807A>C
NM_001318087.1:c.1469A>C	NP_001305016.1:p.Tyr490Ser
NM_001318088.1:c.548A>C	NP_001305017.1:p.Tyr183Ser
NM_001365135.1:c.1337A>C	NP_001352064.1:p.Tyr446Ser
NR_027400.2:n.1482A>C
NR_134502.1:n.1001A>C
XM_011520304.2:c.1337A>C	XP_011518606.1:p.Tyr446Ser
XR_001747940.2:n.1634A>C
XR_002957158.1:n.1836A>C
NM_000543.5:c.1469A>C MANE Select	NP_000534.3:p.Tyr490Ser
NM_001007593.3:c.1466A>C	NP_001007594.2:p.Tyr489Ser
NM_001318087.2:c.1469A>C	NP_001305016.1:p.Tyr490Ser
NM_001318088.2:c.548A>C	NP_001305017.1:p.Tyr183Ser
NM_001365135.2:c.1337A>C	NP_001352064.1:p.Tyr446Ser
NR_027400.3:n.1422A>C
NR_134502.2:n.941A>C