Canonical Allele Identifier: CA379376822

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415646T>A (hg19) ; chr11:g.6394416T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394416T>A , CM000673.2:g.6394416T>A	GRCh38
NC_000011.9:g.6415646T>A , CM000673.1:g.6415646T>A	GRCh37
NC_000011.8:g.6372222T>A	NCBI36
NG_011780.1:g.8992T>A
NG_029615.1:g.29999A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1705T>A MANE Select	ENSP00000340409.4:p.Phe569Ile
ENST00000342245.8:c.1705T>A	ENSP00000340409.4:p.Phe569Ile
ENST00000526280.1:c.762T>A
ENST00000527275.5:c.1702T>A	ENSP00000435350.1:p.Phe568Ile
ENST00000531303.5:c.*556T>A	ENSP00000432625.1:n.*556T>A
ENST00000533123.5:c.*432T>A	ENSP00000435950.1:n.*432T>A
ENST00000534405.5:c.*536T>A	ENSP00000434353.1:n.*536T>A
NM_000543.4:c.1705T>A	NP_000534.3:p.Phe569Ile
NM_001007593.2:c.1702T>A	NP_001007594.2:p.Phe568Ile
XM_005253075.3:c.*198T>A	XP_005253132.1:n.*198T>A
XM_011520303.1:c.1573T>A	XP_011518605.1:p.Phe525Ile
XM_011520304.1:c.*198T>A	XP_011518606.1:n.*198T>A
NM_001318087.1:c.*198T>A	NP_001305016.1:n.*198T>A
NM_001318088.1:c.784T>A	NP_001305017.1:p.Phe262Ile
NM_001365135.1:c.1573T>A	NP_001352064.1:p.Phe525Ile
NR_027400.2:n.1718T>A
NR_134502.1:n.1257T>A
XM_011520304.2:c.*198T>A	XP_011518606.1:n.*198T>A
XR_001747940.2:n.1890T>A
XR_002957158.1:n.2072T>A
NM_000543.5:c.1705T>A MANE Select	NP_000534.3:p.Phe569Ile
NM_001007593.3:c.1702T>A	NP_001007594.2:p.Phe568Ile
NM_001318087.2:c.*198T>A	NP_001305016.1:n.*198T>A
NM_001318088.2:c.784T>A	NP_001305017.1:p.Phe262Ile
NM_001365135.2:c.1573T>A	NP_001352064.1:p.Phe525Ile
NR_027400.3:n.1658T>A
NR_134502.2:n.1197T>A