Canonical Allele Identifier: CA341962427
Community Standard Title: NM_003944.4(SELENBP1):c.673G>C (p.Gly225Arg)
Gene: SELENBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151366445C>G , CM000663.2:g.151366445C>G GRCh38
NC_000001.10:g.151338921C>G , CM000663.1:g.151338921C>G GRCh37
NC_000001.9:g.149605545C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003944.4:c.673G>C MANE Select NP_003935.2:p.Gly225Arg
ENST00000368868.10:c.673G>C MANE Select ENSP00000357861.5:p.Gly225Arg
NM_001258288.1:c.487G>C NP_001245217.1:p.Gly163Arg
NM_001258288.2:c.487G>C NP_001245217.1:p.Gly163Arg
NM_001258289.1:c.799G>C NP_001245218.1:p.Gly267Arg
NM_001258289.2:c.799G>C NP_001245218.1:p.Gly267Arg
NM_003944.3:c.673G>C NP_003935.2:p.Gly225Arg
ENST00000368868.9:c.673G>C ENSP00000357861.5:p.Gly225Arg
ENST00000423070.5:c.*305G>C ENSP00000416206.1:n.*305G>C
ENST00000424475.5:c.555G>C
ENST00000426705.6:c.799G>C ENSP00000397261.2:p.Gly267Arg
ENST00000427977.6:c.*305G>C ENSP00000412816.1:n.*305G>C
ENST00000443708.5:c.*305G>C ENSP00000402531.1:n.*305G>C
ENST00000447402.7:c.487G>C ENSP00000413960.3:p.Gly163Arg
ENST00000455397.5:c.*122G>C ENSP00000395637.1:n.*122G>C
ENST00000455839.5:c.*576G>C ENSP00000390433.1:n.*576G>C
ENST00000458566.5:c.625G>C ENSP00000406222.1:p.Gly209Arg
ENST00000463664.5:n.978G>C
ENST00000470345.5:n.1148G>C
ENST00000474352.5:n.1147G>C
ENST00000493560.5:n.978G>C
XM_011510110.1:c.799G>C XP_011508412.1:p.Gly267Arg
XM_011510111.1:c.79G>C XP_011508413.1:p.Gly27Arg
XM_024450671.1:c.79G>C XP_024306439.1:p.Gly27Arg
XR_002957987.1:n.1117+277G>C
XR_921993.1:n.953+277G>C
XR_921993.2:n.945+277G>C