Canonical Allele Identifier: CA395618729
Community Standard Title: NM_001330.5(CTF1):c.292C>G (p.Pro98Ala)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902225C>G , CM000678.2:g.30902225C>G GRCh38
NC_000016.9:g.30913546C>G , CM000678.1:g.30913546C>G GRCh37
NC_000016.8:g.30821047C>G NCBI36
NG_009171.1:g.10619C>G , LRG_408:g.10619C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.292C>G MANE Select NP_001321.1:p.Pro98Ala
ENST00000279804.3:c.292C>G MANE Select ENSP00000279804.2:p.Pro98Ala
NM_001142544.1:c.289C>G NP_001136016.1:p.Pro97Ala
NM_001142544.2:c.289C>G NP_001136016.1:p.Pro97Ala
NM_001142544.3:c.289C>G NP_001136016.1:p.Pro97Ala
NM_001330.3:c.292C>G , LRG_408t1:c.292C>G NP_001321.1:p.Pro98Ala
NR_165660.1:n.430C>G
ENST00000279804.2:c.292C>G ENSP00000279804.2:p.Pro98Ala
ENST00000395019.3:c.289C>G ENSP00000378465.3:p.Pro97Ala
XM_011545759.1:c.358C>G XP_011544061.1:p.Pro120Ala
XM_011545759.2:c.358C>G XP_011544061.1:p.Pro120Ala
XM_011545760.1:c.316C>G XP_011544062.1:p.Pro106Ala
XM_011545760.2:c.316C>G XP_011544062.1:p.Pro106Ala