Canonical Allele Identifier: CA494915936
Community Standard Title: NM_001330.5(CTF1):c.588G>C (p.Leu196=)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902521G>C , CM000678.2:g.30902521G>C GRCh38
NC_000016.9:g.30913842G>C , CM000678.1:g.30913842G>C GRCh37
NC_000016.8:g.30821343G>C NCBI36
NG_009171.1:g.10915G>C , LRG_408:g.10915G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.588G>C MANE Select NP_001321.1:p.Leu196=
ENST00000279804.3:c.588G>C MANE Select ENSP00000279804.2:p.Leu196=
NM_001142544.1:c.585G>C NP_001136016.1:p.Leu195=
NM_001142544.2:c.585G>C NP_001136016.1:p.Leu195=
NM_001142544.3:c.585G>C NP_001136016.1:p.Leu195=
NM_001330.3:c.588G>C , LRG_408t1:c.588G>C NP_001321.1:p.Leu196=
NR_165660.1:n.726G>C
ENST00000279804.2:c.588G>C ENSP00000279804.2:p.Leu196=
ENST00000395019.3:c.585G>C ENSP00000378465.3:p.Leu195=
XM_011545759.1:c.654G>C XP_011544061.1:p.Leu218=
XM_011545759.2:c.654G>C XP_011544061.1:p.Leu218=
XM_011545760.1:c.612G>C XP_011544062.1:p.Leu204=
XM_011545760.2:c.612G>C XP_011544062.1:p.Leu204=