Canonical Allele Identifier: CA395619752
Community Standard Title: NM_001330.5(CTF1):c.565G>T (p.Glu189Ter)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902498G>T , CM000678.2:g.30902498G>T GRCh38
NC_000016.9:g.30913819G>T , CM000678.1:g.30913819G>T GRCh37
NC_000016.8:g.30821320G>T NCBI36
NG_009171.1:g.10892G>T , LRG_408:g.10892G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.565G>T MANE Select NP_001321.1:p.Glu189Ter
ENST00000279804.3:c.565G>T MANE Select ENSP00000279804.2:p.Glu189Ter
NM_001142544.1:c.562G>T NP_001136016.1:p.Glu188Ter
NM_001142544.2:c.562G>T NP_001136016.1:p.Glu188Ter
NM_001142544.3:c.562G>T NP_001136016.1:p.Glu188Ter
NM_001330.3:c.565G>T , LRG_408t1:c.565G>T NP_001321.1:p.Glu189Ter
NR_165660.1:n.703G>T
ENST00000279804.2:c.565G>T ENSP00000279804.2:p.Glu189Ter
ENST00000395019.3:c.562G>T ENSP00000378465.3:p.Glu188Ter
XM_011545759.1:c.631G>T XP_011544061.1:p.Glu211Ter
XM_011545759.2:c.631G>T XP_011544061.1:p.Glu211Ter
XM_011545760.1:c.589G>T XP_011544062.1:p.Glu197Ter
XM_011545760.2:c.589G>T XP_011544062.1:p.Glu197Ter