Canonical Allele Identifier: CA379375504

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2577321
• ClinVar RCV Id: RCV003324398
• MyVariant Identifiers: chr11:g.6415247A>G (hg19) ; chr11:g.6394017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394017A>G , CM000673.2:g.6394017A>G	GRCh38
NC_000011.9:g.6415247A>G , CM000673.1:g.6415247A>G	GRCh37
NC_000011.8:g.6371823A>G	NCBI36
NG_011780.1:g.8593A>G
NG_029615.1:g.30398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1462A>G MANE Select	ENSP00000340409.4:p.Thr488Ala
ENST00000342245.8:c.1462A>G	ENSP00000340409.4:p.Thr488Ala
ENST00000526280.1:c.519A>G
ENST00000527275.5:c.1459A>G	ENSP00000435350.1:p.Thr487Ala
ENST00000531303.5:c.*293A>G	ENSP00000432625.1:n.*293A>G
ENST00000531336.1:n.294A>G
ENST00000532367.1:n.298A>G
ENST00000533123.5:c.*189A>G	ENSP00000435950.1:n.*189A>G
ENST00000534405.5:c.*293A>G	ENSP00000434353.1:n.*293A>G
NM_000543.4:c.1462A>G	NP_000534.3:p.Thr488Ala
NM_001007593.2:c.1459A>G	NP_001007594.2:p.Thr487Ala
XM_005253075.3:c.1462A>G	XP_005253132.1:p.Thr488Ala
XM_011520303.1:c.1330A>G	XP_011518605.1:p.Thr444Ala
XM_011520304.1:c.1330A>G	XP_011518606.1:p.Thr444Ala
XR_930886.1:n.1800A>G
NM_001318087.1:c.1462A>G	NP_001305016.1:p.Thr488Ala
NM_001318088.1:c.541A>G	NP_001305017.1:p.Thr181Ala
NM_001365135.1:c.1330A>G	NP_001352064.1:p.Thr444Ala
NR_027400.2:n.1475A>G
NR_134502.1:n.994A>G
XM_011520304.2:c.1330A>G	XP_011518606.1:p.Thr444Ala
XR_001747940.2:n.1627A>G
XR_002957158.1:n.1829A>G
NM_000543.5:c.1462A>G MANE Select	NP_000534.3:p.Thr488Ala
NM_001007593.3:c.1459A>G	NP_001007594.2:p.Thr487Ala
NM_001318087.2:c.1462A>G	NP_001305016.1:p.Thr488Ala
NM_001318088.2:c.541A>G	NP_001305017.1:p.Thr181Ala
NM_001365135.2:c.1330A>G	NP_001352064.1:p.Thr444Ala
NR_027400.3:n.1415A>G
NR_134502.2:n.934A>G