Canonical Allele Identifier: CA374378014
Community Standard Title: NM_001079802.2(FKTN):c.1178T>A (p.Leu393Gln)
Gene: FKTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105635056T>A , CM000671.2:g.105635056T>A GRCh38
NC_000009.11:g.108397337T>A , CM000671.1:g.108397337T>A GRCh37
NC_000009.10:g.107437158T>A NCBI36
NG_008754.1:g.81927T>A , LRG_434:g.81927T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001079802.2:c.1178T>A MANE Select NP_001073270.1:p.Leu393Gln
ENST00000357998.10:c.1178T>A MANE Select ENSP00000350687.6:p.Leu393Gln
NM_001079802.1:c.1178T>A , LRG_434t1:c.1178T>A NP_001073270.1:p.Leu393Gln
NM_001198963.1:c.1178T>A NP_001185892.1:p.Leu393Gln
NM_001198963.2:c.1178T>A NP_001185892.1:p.Leu393Gln
NM_001351496.1:c.1178T>A NP_001338425.1:p.Leu393Gln
NM_001351496.2:c.1178T>A NP_001338425.1:p.Leu393Gln
NM_001351497.1:c.1109T>A NP_001338426.1:p.Leu370Gln
NM_001351497.2:c.1109T>A NP_001338426.1:p.Leu370Gln
NM_001351498.1:c.1209T>A NP_001338427.1:p.Pro403=
NM_001351498.2:c.1209T>A NP_001338427.1:p.Pro403=
NM_001351499.1:c.782T>A NP_001338428.1:p.Leu261Gln
NM_001351499.2:c.782T>A NP_001338428.1:p.Leu261Gln
NM_001351500.1:c.782T>A NP_001338429.1:p.Leu261Gln
NM_001351500.2:c.782T>A NP_001338429.1:p.Leu261Gln
NM_001351501.1:c.782T>A NP_001338430.1:p.Leu261Gln
NM_001351501.2:c.782T>A NP_001338430.1:p.Leu261Gln
NM_001351502.1:c.782T>A NP_001338431.1:p.Leu261Gln
NM_001351502.2:c.782T>A NP_001338431.1:p.Leu261Gln
NM_006731.2:c.1178T>A , LRG_434t2:c.1178T>A NP_006722.2:p.Leu393Gln
NR_147213.1:n.1302T>A
NR_147213.2:n.1301T>A
NR_147214.1:n.1474T>A
NR_147214.2:n.1473T>A
ENST00000223528.6:c.1178T>A ENSP00000223528.2:p.Leu393Gln
ENST00000357998.9:c.1178T>A ENSP00000350687.5:p.Leu393Gln
ENST00000448551.6:c.1178T>A ENSP00000399140.2:p.Leu393Gln
ENST00000457847.1:c.268T>A
ENST00000602526.1:c.*1216T>A ENSP00000473347.1:n.*1216T>A
ENST00000602661.5:c.1178T>A ENSP00000473540.1:p.Leu393Gln
ENST00000602661.6:c.*786T>A ENSP00000473540.2:n.*786T>A
ENST00000642177.1:c.*393T>A ENSP00000495864.1:n.*393T>A
ENST00000642537.1:c.*1446T>A ENSP00000495945.1:n.*1446T>A
ENST00000642952.1:c.1518T>A ENSP00000493886.1:n.1518T>A
ENST00000644273.1:c.461T>A
ENST00000645933.1:c.*1491T>A ENSP00000495852.1:n.*1491T>A
ENST00000674563.1:c.*159T>A ENSP00000502153.1:n.*159T>A
ENST00000674633.1:c.1178T>A ENSP00000502164.1:p.Leu393Gln
ENST00000675695.1:c.*159T>A ENSP00000502460.1:n.*159T>A
ENST00000675736.1:c.*958T>A ENSP00000502809.1:n.*958T>A
ENST00000676011.1:n.2542T>A
ENST00000676310.1:c.1178T>A ENSP00000501585.1:p.Leu393Gln
XM_006717014.2:c.786T>A XP_006717077.1:p.Pro262=
XM_011518378.1:c.1381T>A XP_011516680.1:p.Cys461Ser
XM_011518378.2:c.1381T>A XP_011516680.1:p.Cys461Ser
XM_011518380.1:c.*117T>A XP_011516682.1:n.*117T>A
XM_011518386.1:c.1209T>A XP_011516688.1:p.Pro403=
XM_011518391.1:c.786T>A XP_011516693.1:p.Pro262=
XM_011518391.2:c.786T>A XP_011516693.1:p.Pro262=
XM_017014464.1:c.1178T>A XP_016869953.1:p.Leu393Gln
XM_017014465.1:c.1178T>A XP_016869954.1:p.Leu393Gln
XM_017014467.1:c.1178T>A XP_016869956.1:p.Leu393Gln
XM_017014468.1:c.1178T>A XP_016869957.1:p.Leu393Gln
XM_017014469.1:c.1178T>A XP_016869958.1:p.Leu393Gln
XM_017014470.1:c.1178T>A XP_016869959.1:p.Leu393Gln
XR_001746242.2:n.1745T>A
XR_001746243.2:n.1864T>A
XR_001746244.2:n.1573T>A
XR_001746245.1:n.1564T>A
XR_001746248.1:n.2657T>A
XR_002956770.1:n.1420T>A