Canonical Allele Identifier: CA395618871
Community Standard Title: NM_001330.5(CTF1):c.332T>C (p.Leu111Pro)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902265T>C , CM000678.2:g.30902265T>C GRCh38
NC_000016.9:g.30913586T>C , CM000678.1:g.30913586T>C GRCh37
NC_000016.8:g.30821087T>C NCBI36
NG_009171.1:g.10659T>C , LRG_408:g.10659T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.332T>C MANE Select NP_001321.1:p.Leu111Pro
ENST00000279804.3:c.332T>C MANE Select ENSP00000279804.2:p.Leu111Pro
NM_001142544.1:c.329T>C NP_001136016.1:p.Leu110Pro
NM_001142544.2:c.329T>C NP_001136016.1:p.Leu110Pro
NM_001142544.3:c.329T>C NP_001136016.1:p.Leu110Pro
NM_001330.3:c.332T>C , LRG_408t1:c.332T>C NP_001321.1:p.Leu111Pro
NR_165660.1:n.470T>C
ENST00000279804.2:c.332T>C ENSP00000279804.2:p.Leu111Pro
ENST00000395019.3:c.329T>C ENSP00000378465.3:p.Leu110Pro
XM_011545759.1:c.398T>C XP_011544061.1:p.Leu133Pro
XM_011545759.2:c.398T>C XP_011544061.1:p.Leu133Pro
XM_011545760.1:c.356T>C XP_011544062.1:p.Leu119Pro
XM_011545760.2:c.356T>C XP_011544062.1:p.Leu119Pro