Canonical Allele Identifier: CA7233487
Community Standard Title: NM_001371533.1(FUT8):c.1649C>T (p.Thr550Met)
Gene: FUT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65742331C>T , CM000676.2:g.65742331C>T GRCh38
NC_000014.8:g.66209049C>T , CM000676.1:g.66209049C>T GRCh37
NC_000014.7:g.65278802C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001371533.1:c.1649C>T MANE Select NP_001358462.1:p.Thr550Met
ENST00000673929.1:c.1649C>T MANE Select ENSP00000501213.1:p.Thr550Met
NM_001371534.1:c.1649C>T NP_001358463.1:p.Thr550Met
NM_001371536.1:c.1751C>T NP_001358465.1:p.Thr584Met
NM_004480.4:c.1160C>T NP_004471.4:p.Thr387Met
NM_178155.2:c.1649C>T NP_835368.1:p.Thr550Met
NM_178155.3:c.1649C>T NP_835368.1:p.Thr550Met
NM_178156.2:c.1649C>T NP_835369.1:p.Thr550Met
NR_038167.1:n.2952C>T
NR_038170.1:n.2459C>T
ENST00000342677.10:c.*298C>T ENSP00000345865.6:n.*298C>T
ENST00000358307.6:c.1262C>T ENSP00000351057.2:p.Thr421Met
ENST00000360689.9:c.1649C>T ENSP00000353910.5:p.Thr550Met
ENST00000394586.6:c.1649C>T ENSP00000378087.2:p.Thr550Met
ENST00000557164.5:c.1160C>T ENSP00000452433.1:p.Thr387Met
ENST00000674118.1:c.*219C>T ENSP00000501008.1:n.*219C>T
XM_011536613.1:c.1649C>T XP_011534915.1:p.Thr550Met
XM_011536614.1:c.956C>T XP_011534916.1:p.Thr319Met
XM_011536614.3:c.956C>T XP_011534916.1:p.Thr319Met
XM_017021136.1:c.1751C>T XP_016876625.1:p.Thr584Met
XM_017021137.1:c.1751C>T XP_016876626.1:p.Thr584Met
XM_017021138.1:c.1751C>T XP_016876627.1:p.Thr584Met
XM_017021139.1:c.1751C>T XP_016876628.1:p.Thr584Met
XM_017021140.1:c.1562C>T XP_016876629.1:p.Thr521Met