Canonical Allele Identifier: CA5170592

Gene: FKTN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105635063G>T , CM000671.2:g.105635063G>T	GRCh38
NC_000009.11:g.108397344G>T , CM000671.1:g.108397344G>T	GRCh37
NC_000009.10:g.107437165G>T	NCBI36
NG_008754.1:g.81934G>T , LRG_434:g.81934G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001079802.2:c.1185G>T MANE Select	NP_001073270.1:p.Pro395=
ENST00000357998.10:c.1185G>T MANE Select	ENSP00000350687.6:p.Pro395=
NM_001079802.1:c.1185G>T , LRG_434t1:c.1185G>T	NP_001073270.1:p.Pro395=
NM_001198963.1:c.1185G>T	NP_001185892.1:p.Pro395=
NM_001198963.2:c.1185G>T	NP_001185892.1:p.Pro395=
NM_001351496.1:c.1185G>T	NP_001338425.1:p.Pro395=
NM_001351496.2:c.1185G>T	NP_001338425.1:p.Pro395=
NM_001351497.1:c.1116G>T	NP_001338426.1:p.Pro372=
NM_001351497.2:c.1116G>T	NP_001338426.1:p.Pro372=
NM_001351498.1:c.1216G>T	NP_001338427.1:p.Glu406Ter
NM_001351498.2:c.1216G>T	NP_001338427.1:p.Glu406Ter
NM_001351499.1:c.789G>T	NP_001338428.1:p.Pro263=
NM_001351499.2:c.789G>T	NP_001338428.1:p.Pro263=
NM_001351500.1:c.789G>T	NP_001338429.1:p.Pro263=
NM_001351500.2:c.789G>T	NP_001338429.1:p.Pro263=
NM_001351501.1:c.789G>T	NP_001338430.1:p.Pro263=
NM_001351501.2:c.789G>T	NP_001338430.1:p.Pro263=
NM_001351502.1:c.789G>T	NP_001338431.1:p.Pro263=
NM_001351502.2:c.789G>T	NP_001338431.1:p.Pro263=
NM_006731.2:c.1185G>T , LRG_434t2:c.1185G>T	NP_006722.2:p.Pro395=
NR_147213.1:n.1309G>T
NR_147213.2:n.1308G>T
NR_147214.1:n.1481G>T
NR_147214.2:n.1480G>T
ENST00000223528.6:c.1185G>T	ENSP00000223528.2:p.Pro395=
ENST00000357998.9:c.1185G>T	ENSP00000350687.5:p.Pro395=
ENST00000448551.6:c.1185G>T	ENSP00000399140.2:p.Pro395=
ENST00000457847.1:c.275G>T
ENST00000602526.1:c.*1223G>T	ENSP00000473347.1:n.*1223G>T
ENST00000602661.5:c.1185G>T	ENSP00000473540.1:p.Pro395=
ENST00000602661.6:c.*793G>T	ENSP00000473540.2:n.*793G>T
ENST00000642177.1:c.*400G>T	ENSP00000495864.1:n.*400G>T
ENST00000642537.1:c.*1453G>T	ENSP00000495945.1:n.*1453G>T
ENST00000642952.1:c.1525G>T	ENSP00000493886.1:n.1525G>T
ENST00000644273.1:c.468G>T
ENST00000645933.1:c.*1498G>T	ENSP00000495852.1:n.*1498G>T
ENST00000674563.1:c.*166G>T	ENSP00000502153.1:n.*166G>T
ENST00000674633.1:c.1185G>T	ENSP00000502164.1:p.Pro395=
ENST00000675695.1:c.*166G>T	ENSP00000502460.1:n.*166G>T
ENST00000675736.1:c.*965G>T	ENSP00000502809.1:n.*965G>T
ENST00000676011.1:n.2549G>T
ENST00000676310.1:c.1185G>T	ENSP00000501585.1:p.Pro395=
XM_006717014.2:c.793G>T	XP_006717077.1:p.Glu265Ter
XM_011518378.1:c.1388G>T	XP_011516680.1:p.Arg463Leu
XM_011518378.2:c.1388G>T	XP_011516680.1:p.Arg463Leu
XM_011518380.1:c.*124G>T	XP_011516682.1:n.*124G>T
XM_011518386.1:c.1216G>T	XP_011516688.1:p.Glu406Ter
XM_011518391.1:c.793G>T	XP_011516693.1:p.Glu265Ter
XM_011518391.2:c.793G>T	XP_011516693.1:p.Glu265Ter
XM_017014464.1:c.1185G>T	XP_016869953.1:p.Pro395=
XM_017014465.1:c.1185G>T	XP_016869954.1:p.Pro395=
XM_017014467.1:c.1185G>T	XP_016869956.1:p.Pro395=
XM_017014468.1:c.1185G>T	XP_016869957.1:p.Pro395=
XM_017014469.1:c.1185G>T	XP_016869958.1:p.Pro395=
XM_017014470.1:c.1185G>T	XP_016869959.1:p.Pro395=
XR_001746242.2:n.1752G>T
XR_001746243.2:n.1871G>T
XR_001746244.2:n.1580G>T
XR_001746245.1:n.1571G>T
XR_001746248.1:n.2664G>T
XR_002956770.1:n.1427G>T