Canonical Allele Identifier: CA395618533
Community Standard Title: NM_001330.5(CTF1):c.235G>A (p.Ala79Thr)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902168G>A , CM000678.2:g.30902168G>A GRCh38
NC_000016.9:g.30913489G>A , CM000678.1:g.30913489G>A GRCh37
NC_000016.8:g.30820990G>A NCBI36
NG_009171.1:g.10562G>A , LRG_408:g.10562G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.235G>A MANE Select NP_001321.1:p.Ala79Thr
ENST00000279804.3:c.235G>A MANE Select ENSP00000279804.2:p.Ala79Thr
NM_001142544.1:c.232G>A NP_001136016.1:p.Ala78Thr
NM_001142544.2:c.232G>A NP_001136016.1:p.Ala78Thr
NM_001142544.3:c.232G>A NP_001136016.1:p.Ala78Thr
NM_001330.3:c.235G>A , LRG_408t1:c.235G>A NP_001321.1:p.Ala79Thr
NR_165660.1:n.373G>A
ENST00000279804.2:c.235G>A ENSP00000279804.2:p.Ala79Thr
ENST00000395019.3:c.232G>A ENSP00000378465.3:p.Ala78Thr
XM_011545759.1:c.301G>A XP_011544061.1:p.Ala101Thr
XM_011545759.2:c.301G>A XP_011544061.1:p.Ala101Thr
XM_011545760.1:c.259G>A XP_011544062.1:p.Ala87Thr
XM_011545760.2:c.259G>A XP_011544062.1:p.Ala87Thr