Canonical Allele Identifier: CA379376953

Gene: SMPD1

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1735G>C MANE Select	ENSP00000340409.4:p.Gly579Arg
ENST00000342245.8:c.1735G>C	ENSP00000340409.4:p.Gly579Arg
ENST00000526280.1:c.792G>C
ENST00000527275.5:c.1732G>C	ENSP00000435350.1:p.Gly578Arg
ENST00000531303.5:c.*586G>C	ENSP00000432625.1:n.*586G>C
ENST00000533123.5:c.*462G>C	ENSP00000435950.1:n.*462G>C
ENST00000534405.5:c.*566G>C	ENSP00000434353.1:n.*566G>C
NM_000543.4:c.1735G>C	NP_000534.3:p.Gly579Arg
NM_001007593.2:c.1732G>C	NP_001007594.2:p.Gly578Arg
XM_005253075.3:c.*228G>C	XP_005253132.1:n.*228G>C
XM_011520303.1:c.1603G>C	XP_011518605.1:p.Gly535Arg
XM_011520304.1:c.*228G>C	XP_011518606.1:n.*228G>C
NM_001318087.1:c.*228G>C	NP_001305016.1:n.*228G>C
NM_001318088.1:c.814G>C	NP_001305017.1:p.Gly272Arg
NM_001365135.1:c.1603G>C	NP_001352064.1:p.Gly535Arg
NR_027400.2:n.1748G>C
NR_134502.1:n.1287G>C
XM_011520304.2:c.*228G>C	XP_011518606.1:n.*228G>C
XR_001747940.2:n.1920G>C
XR_002957158.1:n.2102G>C
NM_000543.5:c.1735G>C MANE Select	NP_000534.3:p.Gly579Arg
NM_001007593.3:c.1732G>C	NP_001007594.2:p.Gly578Arg
NM_001318087.2:c.*228G>C	NP_001305016.1:n.*228G>C
NM_001318088.2:c.814G>C	NP_001305017.1:p.Gly272Arg
NM_001365135.2:c.1603G>C	NP_001352064.1:p.Gly535Arg
NR_027400.3:n.1688G>C
NR_134502.2:n.1227G>C