Canonical Allele Identifier: CA379375977

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415464G>C (hg19) ; chr11:g.6394234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394234G>C , CM000673.2:g.6394234G>C	GRCh38
NC_000011.9:g.6415464G>C , CM000673.1:g.6415464G>C	GRCh37
NC_000011.8:g.6372040G>C	NCBI36
NG_011780.1:g.8810G>C
NG_029615.1:g.30181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1523G>C MANE Select	ENSP00000340409.4:p.Gly508Ala
ENST00000342245.8:c.1523G>C	ENSP00000340409.4:p.Gly508Ala
ENST00000526280.1:c.580G>C
ENST00000527275.5:c.1520G>C	ENSP00000435350.1:p.Gly507Ala
ENST00000531303.5:c.*374G>C	ENSP00000432625.1:n.*374G>C
ENST00000531336.1:n.511G>C
ENST00000533123.5:c.*250G>C	ENSP00000435950.1:n.*250G>C
ENST00000534405.5:c.*354G>C	ENSP00000434353.1:n.*354G>C
NM_000543.4:c.1523G>C	NP_000534.3:p.Gly508Ala
NM_001007593.2:c.1520G>C	NP_001007594.2:p.Gly507Ala
XM_005253075.3:c.*16G>C	XP_005253132.1:n.*16G>C
XM_011520303.1:c.1391G>C	XP_011518605.1:p.Gly464Ala
XM_011520304.1:c.*16G>C	XP_011518606.1:n.*16G>C
NM_001318087.1:c.*16G>C	NP_001305016.1:n.*16G>C
NM_001318088.1:c.602G>C	NP_001305017.1:p.Gly201Ala
NM_001365135.1:c.1391G>C	NP_001352064.1:p.Gly464Ala
NR_027400.2:n.1536G>C
NR_134502.1:n.1075G>C
XM_011520304.2:c.*16G>C	XP_011518606.1:n.*16G>C
XR_001747940.2:n.1708G>C
XR_002957158.1:n.1890G>C
NM_000543.5:c.1523G>C MANE Select	NP_000534.3:p.Gly508Ala
NM_001007593.3:c.1520G>C	NP_001007594.2:p.Gly507Ala
NM_001318087.2:c.*16G>C	NP_001305016.1:n.*16G>C
NM_001318088.2:c.602G>C	NP_001305017.1:p.Gly201Ala
NM_001365135.2:c.1391G>C	NP_001352064.1:p.Gly464Ala
NR_027400.3:n.1476G>C
NR_134502.2:n.1015G>C