Canonical Allele Identifier: CA395619860
Community Standard Title: NM_001330.5(CTF1):c.590C>T (p.Pro197Leu)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902523C>T , CM000678.2:g.30902523C>T GRCh38
NC_000016.9:g.30913844C>T , CM000678.1:g.30913844C>T GRCh37
NC_000016.8:g.30821345C>T NCBI36
NG_009171.1:g.10917C>T , LRG_408:g.10917C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.590C>T MANE Select NP_001321.1:p.Pro197Leu
ENST00000279804.3:c.590C>T MANE Select ENSP00000279804.2:p.Pro197Leu
NM_001142544.1:c.587C>T NP_001136016.1:p.Pro196Leu
NM_001142544.2:c.587C>T NP_001136016.1:p.Pro196Leu
NM_001142544.3:c.587C>T NP_001136016.1:p.Pro196Leu
NM_001330.3:c.590C>T , LRG_408t1:c.590C>T NP_001321.1:p.Pro197Leu
NR_165660.1:n.728C>T
ENST00000279804.2:c.590C>T ENSP00000279804.2:p.Pro197Leu
ENST00000395019.3:c.587C>T ENSP00000378465.3:p.Pro196Leu
XM_011545759.1:c.656C>T XP_011544061.1:p.Pro219Leu
XM_011545759.2:c.656C>T XP_011544061.1:p.Pro219Leu
XM_011545760.1:c.614C>T XP_011544062.1:p.Pro205Leu
XM_011545760.2:c.614C>T XP_011544062.1:p.Pro205Leu