Canonical Allele Identifier: CA472910287

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415513C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394283C>A , CM000673.2:g.6394283C>A	GRCh38
NC_000011.9:g.6415513C>A , CM000673.1:g.6415513C>A	GRCh37
NC_000011.8:g.6372089C>A	NCBI36
NG_011780.1:g.8859C>A
NG_029615.1:g.30132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1572C>A MANE Select	ENSP00000340409.4:p.Thr524=
ENST00000342245.8:c.1572C>A	ENSP00000340409.4:p.Thr524=
ENST00000526280.1:c.629C>A
ENST00000527275.5:c.1569C>A	ENSP00000435350.1:p.Thr523=
ENST00000531303.5:c.*423C>A	ENSP00000432625.1:n.*423C>A
ENST00000531336.1:n.560C>A
ENST00000533123.5:c.*299C>A	ENSP00000435950.1:n.*299C>A
ENST00000534405.5:c.*403C>A	ENSP00000434353.1:n.*403C>A
NM_000543.4:c.1572C>A	NP_000534.3:p.Thr524=
NM_001007593.2:c.1569C>A	NP_001007594.2:p.Thr523=
XM_005253075.3:c.*65C>A	XP_005253132.1:n.*65C>A
XM_011520303.1:c.1440C>A	XP_011518605.1:p.Thr480=
XM_011520304.1:c.*65C>A	XP_011518606.1:n.*65C>A
NM_001318087.1:c.*65C>A	NP_001305016.1:n.*65C>A
NM_001318088.1:c.651C>A	NP_001305017.1:p.Thr217=
NM_001365135.1:c.1440C>A	NP_001352064.1:p.Thr480=
NR_027400.2:n.1585C>A
NR_134502.1:n.1124C>A
XM_011520304.2:c.*65C>A	XP_011518606.1:n.*65C>A
XR_001747940.2:n.1757C>A
XR_002957158.1:n.1939C>A
NM_000543.5:c.1572C>A MANE Select	NP_000534.3:p.Thr524=
NM_001007593.3:c.1569C>A	NP_001007594.2:p.Thr523=
NM_001318087.2:c.*65C>A	NP_001305016.1:n.*65C>A
NM_001318088.2:c.651C>A	NP_001305017.1:p.Thr217=
NM_001365135.2:c.1440C>A	NP_001352064.1:p.Thr480=
NR_027400.3:n.1525C>A
NR_134502.2:n.1064C>A