Canonical Allele Identifier: CA379375612

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415271G>C (hg19) ; chr11:g.6394041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394041G>C , CM000673.2:g.6394041G>C	GRCh38
NC_000011.9:g.6415271G>C , CM000673.1:g.6415271G>C	GRCh37
NC_000011.8:g.6371847G>C	NCBI36
NG_011780.1:g.8617G>C
NG_029615.1:g.30374C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486G>C MANE Select	ENSP00000340409.4:p.Gly496Arg
ENST00000342245.8:c.1486G>C	ENSP00000340409.4:p.Gly496Arg
ENST00000526280.1:c.543G>C
ENST00000527275.5:c.1483G>C	ENSP00000435350.1:p.Gly495Arg
ENST00000531303.5:c.*317G>C	ENSP00000432625.1:n.*317G>C
ENST00000531336.1:n.318G>C
ENST00000532367.1:n.322G>C
ENST00000533123.5:c.*213G>C	ENSP00000435950.1:n.*213G>C
ENST00000534405.5:c.*317G>C	ENSP00000434353.1:n.*317G>C
NM_000543.4:c.1486G>C	NP_000534.3:p.Gly496Arg
NM_001007593.2:c.1483G>C	NP_001007594.2:p.Gly495Arg
XM_005253075.3:c.1486G>C	XP_005253132.1:p.Val496Leu
XM_011520303.1:c.1354G>C	XP_011518605.1:p.Gly452Arg
XM_011520304.1:c.1354G>C	XP_011518606.1:p.Val452Leu
NM_001318087.1:c.1486G>C	NP_001305016.1:p.Val496Leu
NM_001318088.1:c.565G>C	NP_001305017.1:p.Gly189Arg
NM_001365135.1:c.1354G>C	NP_001352064.1:p.Gly452Arg
NR_027400.2:n.1499G>C
NR_134502.1:n.1018G>C
XM_011520304.2:c.1354G>C	XP_011518606.1:p.Val452Leu
XR_001747940.2:n.1651G>C
XR_002957158.1:n.1853G>C
NM_000543.5:c.1486G>C MANE Select	NP_000534.3:p.Gly496Arg
NM_001007593.3:c.1483G>C	NP_001007594.2:p.Gly495Arg
NM_001318087.2:c.1486G>C	NP_001305016.1:p.Val496Leu
NM_001318088.2:c.565G>C	NP_001305017.1:p.Gly189Arg
NM_001365135.2:c.1354G>C	NP_001352064.1:p.Gly452Arg
NR_027400.3:n.1439G>C
NR_134502.2:n.958G>C