Canonical Allele Identifier: CA252509

Gene: SMPD1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394446G>A , CM000673.2:g.6394446G>A	GRCh38
NC_000011.9:g.6415676G>A , CM000673.1:g.6415676G>A	GRCh37
NC_000011.8:g.6372252G>A	NCBI36
NG_011780.1:g.9022G>A
NG_029615.1:g.29969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1735G>A MANE Select	ENSP00000340409.4:p.Gly579Ser
ENST00000342245.8:c.1735G>A	ENSP00000340409.4:p.Gly579Ser
ENST00000526280.1:c.792G>A
ENST00000527275.5:c.1732G>A	ENSP00000435350.1:p.Gly578Ser
ENST00000531303.5:c.*586G>A	ENSP00000432625.1:n.*586G>A
ENST00000533123.5:c.*462G>A	ENSP00000435950.1:n.*462G>A
ENST00000534405.5:c.*566G>A	ENSP00000434353.1:n.*566G>A
NM_000543.4:c.1735G>A	NP_000534.3:p.Gly579Ser
NM_001007593.2:c.1732G>A	NP_001007594.2:p.Gly578Ser
XM_005253075.3:c.*228G>A	XP_005253132.1:n.*228G>A
XM_011520303.1:c.1603G>A	XP_011518605.1:p.Gly535Ser
XM_011520304.1:c.*228G>A	XP_011518606.1:n.*228G>A
NM_001318087.1:c.*228G>A	NP_001305016.1:n.*228G>A
NM_001318088.1:c.814G>A	NP_001305017.1:p.Gly272Ser
NM_001365135.1:c.1603G>A	NP_001352064.1:p.Gly535Ser
NR_027400.2:n.1748G>A
NR_134502.1:n.1287G>A
XM_011520304.2:c.*228G>A	XP_011518606.1:n.*228G>A
XR_001747940.2:n.1920G>A
XR_002957158.1:n.2102G>A
NM_000543.5:c.1735G>A MANE Select	NP_000534.3:p.Gly579Ser
NM_001007593.3:c.1732G>A	NP_001007594.2:p.Gly578Ser
NM_001318087.2:c.*228G>A	NP_001305016.1:n.*228G>A
NM_001318088.2:c.814G>A	NP_001305017.1:p.Gly272Ser
NM_001365135.2:c.1603G>A	NP_001352064.1:p.Gly535Ser
NR_027400.3:n.1688G>A
NR_134502.2:n.1227G>A