Canonical Allele Identifier: CA5170590
Community Standard Title: NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)
Gene: FKTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105635057G>C , CM000671.2:g.105635057G>C GRCh38
NC_000009.11:g.108397338G>C , CM000671.1:g.108397338G>C GRCh37
NC_000009.10:g.107437159G>C NCBI36
NG_008754.1:g.81928G>C , LRG_434:g.81928G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001079802.2:c.1179G>C MANE Select NP_001073270.1:p.Leu393=
ENST00000357998.10:c.1179G>C MANE Select ENSP00000350687.6:p.Leu393=
NM_001079802.1:c.1179G>C , LRG_434t1:c.1179G>C NP_001073270.1:p.Leu393=
NM_001198963.1:c.1179G>C NP_001185892.1:p.Leu393=
NM_001198963.2:c.1179G>C NP_001185892.1:p.Leu393=
NM_001351496.1:c.1179G>C NP_001338425.1:p.Leu393=
NM_001351496.2:c.1179G>C NP_001338425.1:p.Leu393=
NM_001351497.1:c.1110G>C NP_001338426.1:p.Leu370=
NM_001351497.2:c.1110G>C NP_001338426.1:p.Leu370=
NM_001351498.1:c.1210G>C NP_001338427.1:p.Val404Leu
NM_001351498.2:c.1210G>C NP_001338427.1:p.Val404Leu
NM_001351499.1:c.783G>C NP_001338428.1:p.Leu261=
NM_001351499.2:c.783G>C NP_001338428.1:p.Leu261=
NM_001351500.1:c.783G>C NP_001338429.1:p.Leu261=
NM_001351500.2:c.783G>C NP_001338429.1:p.Leu261=
NM_001351501.1:c.783G>C NP_001338430.1:p.Leu261=
NM_001351501.2:c.783G>C NP_001338430.1:p.Leu261=
NM_001351502.1:c.783G>C NP_001338431.1:p.Leu261=
NM_001351502.2:c.783G>C NP_001338431.1:p.Leu261=
NM_006731.2:c.1179G>C , LRG_434t2:c.1179G>C NP_006722.2:p.Leu393=
NR_147213.1:n.1303G>C
NR_147213.2:n.1302G>C
NR_147214.1:n.1475G>C
NR_147214.2:n.1474G>C
ENST00000223528.6:c.1179G>C ENSP00000223528.2:p.Leu393=
ENST00000357998.9:c.1179G>C ENSP00000350687.5:p.Leu393=
ENST00000448551.6:c.1179G>C ENSP00000399140.2:p.Leu393=
ENST00000457847.1:c.269G>C
ENST00000602526.1:c.*1217G>C ENSP00000473347.1:n.*1217G>C
ENST00000602661.5:c.1179G>C ENSP00000473540.1:p.Leu393=
ENST00000602661.6:c.*787G>C ENSP00000473540.2:n.*787G>C
ENST00000642177.1:c.*394G>C ENSP00000495864.1:n.*394G>C
ENST00000642537.1:c.*1447G>C ENSP00000495945.1:n.*1447G>C
ENST00000642952.1:c.1519G>C ENSP00000493886.1:n.1519G>C
ENST00000644273.1:c.462G>C
ENST00000645933.1:c.*1492G>C ENSP00000495852.1:n.*1492G>C
ENST00000674563.1:c.*160G>C ENSP00000502153.1:n.*160G>C
ENST00000674633.1:c.1179G>C ENSP00000502164.1:p.Leu393=
ENST00000675695.1:c.*160G>C ENSP00000502460.1:n.*160G>C
ENST00000675736.1:c.*959G>C ENSP00000502809.1:n.*959G>C
ENST00000676011.1:n.2543G>C
ENST00000676310.1:c.1179G>C ENSP00000501585.1:p.Leu393=
XM_006717014.2:c.787G>C XP_006717077.1:p.Val263Leu
XM_011518378.1:c.1382G>C XP_011516680.1:p.Cys461Ser
XM_011518378.2:c.1382G>C XP_011516680.1:p.Cys461Ser
XM_011518380.1:c.*118G>C XP_011516682.1:n.*118G>C
XM_011518386.1:c.1210G>C XP_011516688.1:p.Val404Leu
XM_011518391.1:c.787G>C XP_011516693.1:p.Val263Leu
XM_011518391.2:c.787G>C XP_011516693.1:p.Val263Leu
XM_017014464.1:c.1179G>C XP_016869953.1:p.Leu393=
XM_017014465.1:c.1179G>C XP_016869954.1:p.Leu393=
XM_017014467.1:c.1179G>C XP_016869956.1:p.Leu393=
XM_017014468.1:c.1179G>C XP_016869957.1:p.Leu393=
XM_017014469.1:c.1179G>C XP_016869958.1:p.Leu393=
XM_017014470.1:c.1179G>C XP_016869959.1:p.Leu393=
XR_001746242.2:n.1746G>C
XR_001746243.2:n.1865G>C
XR_001746244.2:n.1574G>C
XR_001746245.1:n.1565G>C
XR_001746248.1:n.2658G>C
XR_002956770.1:n.1421G>C