Canonical Allele Identifier: CA379377128

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394497T>C , CM000673.2:g.6394497T>C	GRCh38
NC_000011.9:g.6415727T>C , CM000673.1:g.6415727T>C	GRCh37
NC_000011.8:g.6372303T>C	NCBI36
NG_011780.1:g.9073T>C
NG_029615.1:g.29918A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1786T>C MANE Select	NP_000534.3:p.Cys596Arg
ENST00000342245.9:c.1786T>C MANE Select	ENSP00000340409.4:p.Cys596Arg
NM_000543.4:c.1786T>C	NP_000534.3:p.Cys596Arg
NM_001007593.2:c.1783T>C	NP_001007594.2:p.Cys595Arg
NM_001007593.3:c.1783T>C	NP_001007594.2:p.Cys595Arg
NM_001318087.1:c.*279T>C	NP_001305016.1:n.*279T>C
NM_001318087.2:c.*279T>C	NP_001305016.1:n.*279T>C
NM_001318088.1:c.865T>C	NP_001305017.1:p.Cys289Arg
NM_001318088.2:c.865T>C	NP_001305017.1:p.Cys289Arg
NM_001365135.1:c.1654T>C	NP_001352064.1:p.Cys552Arg
NM_001365135.2:c.1654T>C	NP_001352064.1:p.Cys552Arg
NR_027400.2:n.1799T>C
NR_027400.3:n.1739T>C
NR_134502.1:n.1338T>C
NR_134502.2:n.1278T>C
ENST00000342245.8:c.1786T>C	ENSP00000340409.4:p.Cys596Arg
ENST00000526280.1:c.843T>C
ENST00000527275.5:c.1783T>C	ENSP00000435350.1:p.Cys595Arg
ENST00000531303.5:c.*637T>C	ENSP00000432625.1:n.*637T>C
ENST00000533123.5:c.*513T>C	ENSP00000435950.1:n.*513T>C
ENST00000534405.5:c.*617T>C	ENSP00000434353.1:n.*617T>C
XM_005253075.3:c.*279T>C	XP_005253132.1:n.*279T>C
XM_011520303.1:c.1654T>C	XP_011518605.1:p.Cys552Arg
XM_011520304.1:c.*279T>C	XP_011518606.1:n.*279T>C
XM_011520304.2:c.*279T>C	XP_011518606.1:n.*279T>C
XR_001747940.2:n.1971T>C
XR_002957158.1:n.2153T>C