Canonical Allele Identifier: CA379375513

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415248C>T (hg19) ; chr11:g.6394018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394018C>T , CM000673.2:g.6394018C>T	GRCh38
NC_000011.9:g.6415248C>T , CM000673.1:g.6415248C>T	GRCh37
NC_000011.8:g.6371824C>T	NCBI36
NG_011780.1:g.8594C>T
NG_029615.1:g.30397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1463C>T MANE Select	ENSP00000340409.4:p.Thr488Ile
ENST00000342245.8:c.1463C>T	ENSP00000340409.4:p.Thr488Ile
ENST00000526280.1:c.520C>T
ENST00000527275.5:c.1460C>T	ENSP00000435350.1:p.Thr487Ile
ENST00000531303.5:c.*294C>T	ENSP00000432625.1:n.*294C>T
ENST00000531336.1:n.295C>T
ENST00000532367.1:n.299C>T
ENST00000533123.5:c.*190C>T	ENSP00000435950.1:n.*190C>T
ENST00000534405.5:c.*294C>T	ENSP00000434353.1:n.*294C>T
NM_000543.4:c.1463C>T	NP_000534.3:p.Thr488Ile
NM_001007593.2:c.1460C>T	NP_001007594.2:p.Thr487Ile
XM_005253075.3:c.1463C>T	XP_005253132.1:p.Thr488Ile
XM_011520303.1:c.1331C>T	XP_011518605.1:p.Thr444Ile
XM_011520304.1:c.1331C>T	XP_011518606.1:p.Thr444Ile
XR_930886.1:n.1801C>T
NM_001318087.1:c.1463C>T	NP_001305016.1:p.Thr488Ile
NM_001318088.1:c.542C>T	NP_001305017.1:p.Thr181Ile
NM_001365135.1:c.1331C>T	NP_001352064.1:p.Thr444Ile
NR_027400.2:n.1476C>T
NR_134502.1:n.995C>T
XM_011520304.2:c.1331C>T	XP_011518606.1:p.Thr444Ile
XR_001747940.2:n.1628C>T
XR_002957158.1:n.1830C>T
NM_000543.5:c.1463C>T MANE Select	NP_000534.3:p.Thr488Ile
NM_001007593.3:c.1460C>T	NP_001007594.2:p.Thr487Ile
NM_001318087.2:c.1463C>T	NP_001305016.1:p.Thr488Ile
NM_001318088.2:c.542C>T	NP_001305017.1:p.Thr181Ile
NM_001365135.2:c.1331C>T	NP_001352064.1:p.Thr444Ile
NR_027400.3:n.1416C>T
NR_134502.2:n.935C>T