Canonical Allele Identifier: CA379376830

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415647T>A (hg19) ; chr11:g.6394417T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394417T>A , CM000673.2:g.6394417T>A	GRCh38
NC_000011.9:g.6415647T>A , CM000673.1:g.6415647T>A	GRCh37
NC_000011.8:g.6372223T>A	NCBI36
NG_011780.1:g.8993T>A
NG_029615.1:g.29998A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1706T>A MANE Select	ENSP00000340409.4:p.Phe569Tyr
ENST00000342245.8:c.1706T>A	ENSP00000340409.4:p.Phe569Tyr
ENST00000526280.1:c.763T>A
ENST00000527275.5:c.1703T>A	ENSP00000435350.1:p.Phe568Tyr
ENST00000531303.5:c.*557T>A	ENSP00000432625.1:n.*557T>A
ENST00000533123.5:c.*433T>A	ENSP00000435950.1:n.*433T>A
ENST00000534405.5:c.*537T>A	ENSP00000434353.1:n.*537T>A
NM_000543.4:c.1706T>A	NP_000534.3:p.Phe569Tyr
NM_001007593.2:c.1703T>A	NP_001007594.2:p.Phe568Tyr
XM_005253075.3:c.*199T>A	XP_005253132.1:n.*199T>A
XM_011520303.1:c.1574T>A	XP_011518605.1:p.Phe525Tyr
XM_011520304.1:c.*199T>A	XP_011518606.1:n.*199T>A
NM_001318087.1:c.*199T>A	NP_001305016.1:n.*199T>A
NM_001318088.1:c.785T>A	NP_001305017.1:p.Phe262Tyr
NM_001365135.1:c.1574T>A	NP_001352064.1:p.Phe525Tyr
NR_027400.2:n.1719T>A
NR_134502.1:n.1258T>A
XM_011520304.2:c.*199T>A	XP_011518606.1:n.*199T>A
XR_001747940.2:n.1891T>A
XR_002957158.1:n.2073T>A
NM_000543.5:c.1706T>A MANE Select	NP_000534.3:p.Phe569Tyr
NM_001007593.3:c.1703T>A	NP_001007594.2:p.Phe568Tyr
NM_001318087.2:c.*199T>A	NP_001305016.1:n.*199T>A
NM_001318088.2:c.785T>A	NP_001305017.1:p.Phe262Tyr
NM_001365135.2:c.1574T>A	NP_001352064.1:p.Phe525Tyr
NR_027400.3:n.1659T>A
NR_134502.2:n.1198T>A