Canonical Allele Identifier: CA280531254
Community Standard Title: NM_001330.5(CTF1):c.287C>A (p.Ala96Glu)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902220C>A , CM000678.2:g.30902220C>A GRCh38
NC_000016.9:g.30913541C>A , CM000678.1:g.30913541C>A GRCh37
NC_000016.8:g.30821042C>A NCBI36
NG_009171.1:g.10614C>A , LRG_408:g.10614C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.287C>A MANE Select NP_001321.1:p.Ala96Glu
ENST00000279804.3:c.287C>A MANE Select ENSP00000279804.2:p.Ala96Glu
NM_001142544.1:c.284C>A NP_001136016.1:p.Ala95Glu
NM_001142544.2:c.284C>A NP_001136016.1:p.Ala95Glu
NM_001142544.3:c.284C>A NP_001136016.1:p.Ala95Glu
NM_001330.3:c.287C>A , LRG_408t1:c.287C>A NP_001321.1:p.Ala96Glu
NR_165660.1:n.425C>A
ENST00000279804.2:c.287C>A ENSP00000279804.2:p.Ala96Glu
ENST00000395019.3:c.284C>A ENSP00000378465.3:p.Ala95Glu
XM_011545759.1:c.353C>A XP_011544061.1:p.Ala118Glu
XM_011545759.2:c.353C>A XP_011544061.1:p.Ala118Glu
XM_011545760.1:c.311C>A XP_011544062.1:p.Ala104Glu
XM_011545760.2:c.311C>A XP_011544062.1:p.Ala104Glu