Canonical Allele Identifier: CA379374241

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414860G>C (hg19) ; chr11:g.6393630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393630G>C , CM000673.2:g.6393630G>C	GRCh38
NC_000011.9:g.6414860G>C , CM000673.1:g.6414860G>C	GRCh37
NC_000011.8:g.6371436G>C	NCBI36
NG_011780.1:g.8206G>C
NG_029615.1:g.30785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1277G>C MANE Select	ENSP00000340409.4:p.Gly426Ala
ENST00000342245.8:c.1277G>C	ENSP00000340409.4:p.Gly426Ala
ENST00000526280.1:c.334G>C
ENST00000527275.5:c.1274G>C	ENSP00000435350.1:p.Gly425Ala
ENST00000531303.5:c.*108G>C	ENSP00000432625.1:n.*108G>C
ENST00000531336.1:n.109G>C
ENST00000532367.1:n.113G>C
ENST00000533123.5:c.*4G>C	ENSP00000435950.1:n.*4G>C
ENST00000534405.5:c.*108G>C	ENSP00000434353.1:n.*108G>C
NM_000543.4:c.1277G>C	NP_000534.3:p.Gly426Ala
NM_001007593.2:c.1274G>C	NP_001007594.2:p.Gly425Ala
XM_005253075.3:c.1277G>C	XP_005253132.1:p.Gly426Ala
XM_011520303.1:c.1145G>C	XP_011518605.1:p.Gly382Ala
XM_011520304.1:c.1145G>C	XP_011518606.1:p.Gly382Ala
XR_930886.1:n.1615G>C
NM_001318087.1:c.1277G>C	NP_001305016.1:p.Gly426Ala
NM_001318088.1:c.356G>C	NP_001305017.1:p.Gly119Ala
NM_001365135.1:c.1145G>C	NP_001352064.1:p.Gly382Ala
NR_027400.2:n.1290G>C
NR_134502.1:n.809G>C
XM_011520304.2:c.1145G>C	XP_011518606.1:p.Gly382Ala
XR_001747940.2:n.1442G>C
XR_002957158.1:n.1442G>C
NM_000543.5:c.1277G>C MANE Select	NP_000534.3:p.Gly426Ala
NM_001007593.3:c.1274G>C	NP_001007594.2:p.Gly425Ala
NM_001318087.2:c.1277G>C	NP_001305016.1:p.Gly426Ala
NM_001318088.2:c.356G>C	NP_001305017.1:p.Gly119Ala
NM_001365135.2:c.1145G>C	NP_001352064.1:p.Gly382Ala
NR_027400.3:n.1230G>C
NR_134502.2:n.749G>C