Canonical Allele Identifier: CA379377489

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415832T>C (hg19) ; chr11:g.6394602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394602T>C , CM000673.2:g.6394602T>C	GRCh38
NC_000011.9:g.6415832T>C , CM000673.1:g.6415832T>C	GRCh37
NC_000011.8:g.6372408T>C	NCBI36
NG_011780.1:g.9178T>C
NG_029615.1:g.29813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1891T>C MANE Select	ENSP00000340409.4:p.Cys631Arg
ENST00000342245.8:c.1891T>C	ENSP00000340409.4:p.Cys631Arg
ENST00000526280.1:c.948T>C
ENST00000527275.5:c.1888T>C	ENSP00000435350.1:p.Cys630Arg
ENST00000531303.5:c.*742T>C	ENSP00000432625.1:n.*742T>C
ENST00000533123.5:c.*618T>C	ENSP00000435950.1:n.*618T>C
ENST00000534405.5:c.*722T>C	ENSP00000434353.1:n.*722T>C
NM_000543.4:c.1891T>C	NP_000534.3:p.Cys631Arg
NM_001007593.2:c.1888T>C	NP_001007594.2:p.Cys630Arg
XM_005253075.3:c.*384T>C	XP_005253132.1:n.*384T>C
XM_011520303.1:c.1759T>C	XP_011518605.1:p.Cys587Arg
NM_001318087.1:c.*384T>C	NP_001305016.1:n.*384T>C
NM_001318088.1:c.970T>C	NP_001305017.1:p.Cys324Arg
NM_001365135.1:c.1759T>C	NP_001352064.1:p.Cys587Arg
NR_027400.2:n.1904T>C
NR_134502.1:n.1443T>C
XR_001747940.2:n.2076T>C
XR_002957158.1:n.2258T>C
NM_000543.5:c.1891T>C MANE Select	NP_000534.3:p.Cys631Arg
NM_001007593.3:c.1888T>C	NP_001007594.2:p.Cys630Arg
NM_001318087.2:c.*384T>C	NP_001305016.1:n.*384T>C
NM_001318088.2:c.970T>C	NP_001305017.1:p.Cys324Arg
NM_001365135.2:c.1759T>C	NP_001352064.1:p.Cys587Arg
NR_027400.3:n.1844T>C
NR_134502.2:n.1383T>C