Canonical Allele Identifier: CA379377141

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415730G>A (hg19) ; chr11:g.6394500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394500G>A , CM000673.2:g.6394500G>A	GRCh38
NC_000011.9:g.6415730G>A , CM000673.1:g.6415730G>A	GRCh37
NC_000011.8:g.6372306G>A	NCBI36
NG_011780.1:g.9076G>A
NG_029615.1:g.29915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1789G>A MANE Select	ENSP00000340409.4:p.Ala597Thr
ENST00000342245.8:c.1789G>A	ENSP00000340409.4:p.Ala597Thr
ENST00000526280.1:c.846G>A
ENST00000527275.5:c.1786G>A	ENSP00000435350.1:p.Ala596Thr
ENST00000531303.5:c.*640G>A	ENSP00000432625.1:n.*640G>A
ENST00000533123.5:c.*516G>A	ENSP00000435950.1:n.*516G>A
ENST00000534405.5:c.*620G>A	ENSP00000434353.1:n.*620G>A
NM_000543.4:c.1789G>A	NP_000534.3:p.Ala597Thr
NM_001007593.2:c.1786G>A	NP_001007594.2:p.Ala596Thr
XM_005253075.3:c.*282G>A	XP_005253132.1:n.*282G>A
XM_011520303.1:c.1657G>A	XP_011518605.1:p.Ala553Thr
XM_011520304.1:c.*282G>A	XP_011518606.1:n.*282G>A
NM_001318087.1:c.*282G>A	NP_001305016.1:n.*282G>A
NM_001318088.1:c.868G>A	NP_001305017.1:p.Ala290Thr
NM_001365135.1:c.1657G>A	NP_001352064.1:p.Ala553Thr
NR_027400.2:n.1802G>A
NR_134502.1:n.1341G>A
XM_011520304.2:c.*282G>A	XP_011518606.1:n.*282G>A
XR_001747940.2:n.1974G>A
XR_002957158.1:n.2156G>A
NM_000543.5:c.1789G>A MANE Select	NP_000534.3:p.Ala597Thr
NM_001007593.3:c.1786G>A	NP_001007594.2:p.Ala596Thr
NM_001318087.2:c.*282G>A	NP_001305016.1:n.*282G>A
NM_001318088.2:c.868G>A	NP_001305017.1:p.Ala290Thr
NM_001365135.2:c.1657G>A	NP_001352064.1:p.Ala553Thr
NR_027400.3:n.1742G>A
NR_134502.2:n.1281G>A