Canonical Allele Identifier: CA379375576

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2582293
• ClinVar RCV Id: RCV003333259
• MyVariant Identifiers: chr11:g.6415266A>T (hg19) ; chr11:g.6394036A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394036A>T , CM000673.2:g.6394036A>T	GRCh38
NC_000011.9:g.6415266A>T , CM000673.1:g.6415266A>T	GRCh37
NC_000011.8:g.6371842A>T	NCBI36
NG_011780.1:g.8612A>T
NG_029615.1:g.30379T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1481A>T MANE Select	ENSP00000340409.4:p.Asn494Ile
ENST00000342245.8:c.1481A>T	ENSP00000340409.4:p.Asn494Ile
ENST00000526280.1:c.538A>T
ENST00000527275.5:c.1478A>T	ENSP00000435350.1:p.Asn493Ile
ENST00000531303.5:c.*312A>T	ENSP00000432625.1:n.*312A>T
ENST00000531336.1:n.313A>T
ENST00000532367.1:n.317A>T
ENST00000533123.5:c.*208A>T	ENSP00000435950.1:n.*208A>T
ENST00000534405.5:c.*312A>T	ENSP00000434353.1:n.*312A>T
NM_000543.4:c.1481A>T	NP_000534.3:p.Asn494Ile
NM_001007593.2:c.1478A>T	NP_001007594.2:p.Asn493Ile
XM_005253075.3:c.1481A>T	XP_005253132.1:p.Asn494Ile
XM_011520303.1:c.1349A>T	XP_011518605.1:p.Asn450Ile
XM_011520304.1:c.1349A>T	XP_011518606.1:p.Asn450Ile
NM_001318087.1:c.1481A>T	NP_001305016.1:p.Asn494Ile
NM_001318088.1:c.560A>T	NP_001305017.1:p.Asn187Ile
NM_001365135.1:c.1349A>T	NP_001352064.1:p.Asn450Ile
NR_027400.2:n.1494A>T
NR_134502.1:n.1013A>T
XM_011520304.2:c.1349A>T	XP_011518606.1:p.Asn450Ile
XR_001747940.2:n.1646A>T
XR_002957158.1:n.1848A>T
NM_000543.5:c.1481A>T MANE Select	NP_000534.3:p.Asn494Ile
NM_001007593.3:c.1478A>T	NP_001007594.2:p.Asn493Ile
NM_001318087.2:c.1481A>T	NP_001305016.1:p.Asn494Ile
NM_001318088.2:c.560A>T	NP_001305017.1:p.Asn187Ile
NM_001365135.2:c.1349A>T	NP_001352064.1:p.Asn450Ile
NR_027400.3:n.1434A>T
NR_134502.2:n.953A>T