Canonical Allele Identifier: CA379375527

Gene: SMPD1

Linked Data

• dbSNP Id: rs1324623593
• gnomAD v2: 11-6415251-C-G
• MyVariant Identifiers: chr11:g.6415251C>G (hg19) ; chr11:g.6394021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394021C>G , CM000673.2:g.6394021C>G	GRCh38
NC_000011.9:g.6415251C>G , CM000673.1:g.6415251C>G	GRCh37
NC_000011.8:g.6371827C>G	NCBI36
NG_011780.1:g.8597C>G
NG_029615.1:g.30394G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1466C>G MANE Select	ENSP00000340409.4:p.Thr489Ser
ENST00000342245.8:c.1466C>G	ENSP00000340409.4:p.Thr489Ser
ENST00000526280.1:c.523C>G
ENST00000527275.5:c.1463C>G	ENSP00000435350.1:p.Thr488Ser
ENST00000531303.5:c.*297C>G	ENSP00000432625.1:n.*297C>G
ENST00000531336.1:n.298C>G
ENST00000532367.1:n.302C>G
ENST00000533123.5:c.*193C>G	ENSP00000435950.1:n.*193C>G
ENST00000534405.5:c.*297C>G	ENSP00000434353.1:n.*297C>G
NM_000543.4:c.1466C>G	NP_000534.3:p.Thr489Ser
NM_001007593.2:c.1463C>G	NP_001007594.2:p.Thr488Ser
XM_005253075.3:c.1466C>G	XP_005253132.1:p.Thr489Ser
XM_011520303.1:c.1334C>G	XP_011518605.1:p.Thr445Ser
XM_011520304.1:c.1334C>G	XP_011518606.1:p.Thr445Ser
XR_930886.1:n.1804C>G
NM_001318087.1:c.1466C>G	NP_001305016.1:p.Thr489Ser
NM_001318088.1:c.545C>G	NP_001305017.1:p.Thr182Ser
NM_001365135.1:c.1334C>G	NP_001352064.1:p.Thr445Ser
NR_027400.2:n.1479C>G
NR_134502.1:n.998C>G
XM_011520304.2:c.1334C>G	XP_011518606.1:p.Thr445Ser
XR_001747940.2:n.1631C>G
XR_002957158.1:n.1833C>G
NM_000543.5:c.1466C>G MANE Select	NP_000534.3:p.Thr489Ser
NM_001007593.3:c.1463C>G	NP_001007594.2:p.Thr488Ser
NM_001318087.2:c.1466C>G	NP_001305016.1:p.Thr489Ser
NM_001318088.2:c.545C>G	NP_001305017.1:p.Thr182Ser
NM_001365135.2:c.1334C>G	NP_001352064.1:p.Thr445Ser
NR_027400.3:n.1419C>G
NR_134502.2:n.938C>G