Canonical Allele Identifier: CA379375726

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415428G>C (hg19) ; chr11:g.6394198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394198G>C , CM000673.2:g.6394198G>C	GRCh38
NC_000011.9:g.6415428G>C , CM000673.1:g.6415428G>C	GRCh37
NC_000011.8:g.6372004G>C	NCBI36
NG_011780.1:g.8774G>C
NG_029615.1:g.30217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487G>C MANE Select	ENSP00000340409.4:p.Gly496Ala
ENST00000342245.8:c.1487G>C	ENSP00000340409.4:p.Gly496Ala
ENST00000526280.1:c.544G>C
ENST00000527275.5:c.1484G>C	ENSP00000435350.1:p.Gly495Ala
ENST00000531303.5:c.*338G>C	ENSP00000432625.1:n.*338G>C
ENST00000531336.1:n.475G>C
ENST00000533123.5:c.*214G>C	ENSP00000435950.1:n.*214G>C
ENST00000534405.5:c.*318G>C	ENSP00000434353.1:n.*318G>C
NM_000543.4:c.1487G>C	NP_000534.3:p.Gly496Ala
NM_001007593.2:c.1484G>C	NP_001007594.2:p.Gly495Ala
XM_005253075.3:c.1507G>C	XP_005253132.1:p.Val503Leu
XM_011520303.1:c.1355G>C	XP_011518605.1:p.Gly452Ala
XM_011520304.1:c.1375G>C	XP_011518606.1:p.Val459Leu
NM_001318087.1:c.1507G>C	NP_001305016.1:p.Val503Leu
NM_001318088.1:c.566G>C	NP_001305017.1:p.Gly189Ala
NM_001365135.1:c.1355G>C	NP_001352064.1:p.Gly452Ala
NR_027400.2:n.1500G>C
NR_134502.1:n.1039G>C
XM_011520304.2:c.1375G>C	XP_011518606.1:p.Val459Leu
XR_001747940.2:n.1672G>C
XR_002957158.1:n.1854G>C
NM_000543.5:c.1487G>C MANE Select	NP_000534.3:p.Gly496Ala
NM_001007593.3:c.1484G>C	NP_001007594.2:p.Gly495Ala
NM_001318087.2:c.1507G>C	NP_001305016.1:p.Val503Leu
NM_001318088.2:c.566G>C	NP_001305017.1:p.Gly189Ala
NM_001365135.2:c.1355G>C	NP_001352064.1:p.Gly452Ala
NR_027400.3:n.1440G>C
NR_134502.2:n.979G>C