Canonical Allele Identifier: CA379376180

Gene: SMPD1

Linked Data

• dbSNP Id: rs1590747928
• MyVariant Identifiers: chr11:g.6415493A>C (hg19) ; chr11:g.6394263A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394263A>C , CM000673.2:g.6394263A>C	GRCh38
NC_000011.9:g.6415493A>C , CM000673.1:g.6415493A>C	GRCh37
NC_000011.8:g.6372069A>C	NCBI36
NG_011780.1:g.8839A>C
NG_029615.1:g.30152T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1552A>C MANE Select	ENSP00000340409.4:p.Thr518Pro
ENST00000342245.8:c.1552A>C	ENSP00000340409.4:p.Thr518Pro
ENST00000526280.1:c.609A>C
ENST00000527275.5:c.1549A>C	ENSP00000435350.1:p.Thr517Pro
ENST00000531303.5:c.*403A>C	ENSP00000432625.1:n.*403A>C
ENST00000531336.1:n.540A>C
ENST00000533123.5:c.*279A>C	ENSP00000435950.1:n.*279A>C
ENST00000534405.5:c.*383A>C	ENSP00000434353.1:n.*383A>C
NM_000543.4:c.1552A>C	NP_000534.3:p.Thr518Pro
NM_001007593.2:c.1549A>C	NP_001007594.2:p.Thr517Pro
XM_005253075.3:c.*45A>C	XP_005253132.1:n.*45A>C
XM_011520303.1:c.1420A>C	XP_011518605.1:p.Thr474Pro
XM_011520304.1:c.*45A>C	XP_011518606.1:n.*45A>C
NM_001318087.1:c.*45A>C	NP_001305016.1:n.*45A>C
NM_001318088.1:c.631A>C	NP_001305017.1:p.Thr211Pro
NM_001365135.1:c.1420A>C	NP_001352064.1:p.Thr474Pro
NR_027400.2:n.1565A>C
NR_134502.1:n.1104A>C
XM_011520304.2:c.*45A>C	XP_011518606.1:n.*45A>C
XR_001747940.2:n.1737A>C
XR_002957158.1:n.1919A>C
NM_000543.5:c.1552A>C MANE Select	NP_000534.3:p.Thr518Pro
NM_001007593.3:c.1549A>C	NP_001007594.2:p.Thr517Pro
NM_001318087.2:c.*45A>C	NP_001305016.1:n.*45A>C
NM_001318088.2:c.631A>C	NP_001305017.1:p.Thr211Pro
NM_001365135.2:c.1420A>C	NP_001352064.1:p.Thr474Pro
NR_027400.3:n.1505A>C
NR_134502.2:n.1044A>C