Canonical Allele Identifier: CA379376863

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394425-T-G
• MyVariant Identifiers: chr11:g.6415655T>G (hg19) ; chr11:g.6394425T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394425T>G , CM000673.2:g.6394425T>G	GRCh38
NC_000011.9:g.6415655T>G , CM000673.1:g.6415655T>G	GRCh37
NC_000011.8:g.6372231T>G	NCBI36
NG_011780.1:g.9001T>G
NG_029615.1:g.29990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1714T>G MANE Select	ENSP00000340409.4:p.Phe572Val
ENST00000342245.8:c.1714T>G	ENSP00000340409.4:p.Phe572Val
ENST00000526280.1:c.771T>G
ENST00000527275.5:c.1711T>G	ENSP00000435350.1:p.Phe571Val
ENST00000531303.5:c.*565T>G	ENSP00000432625.1:n.*565T>G
ENST00000533123.5:c.*441T>G	ENSP00000435950.1:n.*441T>G
ENST00000534405.5:c.*545T>G	ENSP00000434353.1:n.*545T>G
NM_000543.4:c.1714T>G	NP_000534.3:p.Phe572Val
NM_001007593.2:c.1711T>G	NP_001007594.2:p.Phe571Val
XM_005253075.3:c.*207T>G	XP_005253132.1:n.*207T>G
XM_011520303.1:c.1582T>G	XP_011518605.1:p.Phe528Val
XM_011520304.1:c.*207T>G	XP_011518606.1:n.*207T>G
NM_001318087.1:c.*207T>G	NP_001305016.1:n.*207T>G
NM_001318088.1:c.793T>G	NP_001305017.1:p.Phe265Val
NM_001365135.1:c.1582T>G	NP_001352064.1:p.Phe528Val
NR_027400.2:n.1727T>G
NR_134502.1:n.1266T>G
XM_011520304.2:c.*207T>G	XP_011518606.1:n.*207T>G
XR_001747940.2:n.1899T>G
XR_002957158.1:n.2081T>G
NM_000543.5:c.1714T>G MANE Select	NP_000534.3:p.Phe572Val
NM_001007593.3:c.1711T>G	NP_001007594.2:p.Phe571Val
NM_001318087.2:c.*207T>G	NP_001305016.1:n.*207T>G
NM_001318088.2:c.793T>G	NP_001305017.1:p.Phe265Val
NM_001365135.2:c.1582T>G	NP_001352064.1:p.Phe528Val
NR_027400.3:n.1667T>G
NR_134502.2:n.1206T>G