Canonical Allele Identifier: CA5170605
Community Standard Title: NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)
Gene: FKTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105635148G>A , CM000671.2:g.105635148G>A GRCh38
NC_000009.11:g.108397429G>A , CM000671.1:g.108397429G>A GRCh37
NC_000009.10:g.107437250G>A NCBI36
NG_008754.1:g.82019G>A , LRG_434:g.82019G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001079802.2:c.1270G>A MANE Select NP_001073270.1:p.Gly424Ser
ENST00000357998.10:c.1270G>A MANE Select ENSP00000350687.6:p.Gly424Ser
NM_001079802.1:c.1270G>A , LRG_434t1:c.1270G>A NP_001073270.1:p.Gly424Ser
NM_001198963.1:c.1270G>A NP_001185892.1:p.Gly424Ser
NM_001198963.2:c.1270G>A NP_001185892.1:p.Gly424Ser
NM_001351496.1:c.1270G>A NP_001338425.1:p.Gly424Ser
NM_001351496.2:c.1270G>A NP_001338425.1:p.Gly424Ser
NM_001351497.1:c.1201G>A NP_001338426.1:p.Gly401Ser
NM_001351497.2:c.1201G>A NP_001338426.1:p.Gly401Ser
NM_001351498.1:c.*62G>A NP_001338427.1:n.*62G>A
NM_001351498.2:c.*62G>A NP_001338427.1:n.*62G>A
NM_001351499.1:c.874G>A NP_001338428.1:p.Gly292Ser
NM_001351499.2:c.874G>A NP_001338428.1:p.Gly292Ser
NM_001351500.1:c.874G>A NP_001338429.1:p.Gly292Ser
NM_001351500.2:c.874G>A NP_001338429.1:p.Gly292Ser
NM_001351501.1:c.874G>A NP_001338430.1:p.Gly292Ser
NM_001351501.2:c.874G>A NP_001338430.1:p.Gly292Ser
NM_001351502.1:c.874G>A NP_001338431.1:p.Gly292Ser
NM_001351502.2:c.874G>A NP_001338431.1:p.Gly292Ser
NM_006731.2:c.1270G>A , LRG_434t2:c.1270G>A NP_006722.2:p.Gly424Ser
NR_147213.1:n.1394G>A
NR_147213.2:n.1393G>A
NR_147214.1:n.1566G>A
NR_147214.2:n.1565G>A
ENST00000223528.6:c.1270G>A ENSP00000223528.2:p.Gly424Ser
ENST00000357998.9:c.1270G>A ENSP00000350687.5:p.Gly424Ser
ENST00000448551.6:c.1270G>A ENSP00000399140.2:p.Gly424Ser
ENST00000457847.1:c.360G>A
ENST00000602526.1:c.*1308G>A ENSP00000473347.1:n.*1308G>A
ENST00000602661.5:c.1270G>A ENSP00000473540.1:p.Gly424Ser
ENST00000602661.6:c.*878G>A ENSP00000473540.2:n.*878G>A
ENST00000642177.1:c.*485G>A ENSP00000495864.1:n.*485G>A
ENST00000642537.1:c.*1538G>A ENSP00000495945.1:n.*1538G>A
ENST00000642952.1:c.1610G>A ENSP00000493886.1:n.1610G>A
ENST00000644273.1:c.553G>A
ENST00000645933.1:c.*1583G>A ENSP00000495852.1:n.*1583G>A
ENST00000674563.1:c.*251G>A ENSP00000502153.1:n.*251G>A
ENST00000674633.1:c.1270G>A ENSP00000502164.1:p.Asp424Asn
ENST00000675695.1:c.*251G>A ENSP00000502460.1:n.*251G>A
ENST00000675736.1:c.*1050G>A ENSP00000502809.1:n.*1050G>A
ENST00000676011.1:n.2634G>A
ENST00000676310.1:c.1270G>A ENSP00000501585.1:p.Gly424Ser
XM_006717014.2:c.*62G>A XP_006717077.1:n.*62G>A
XM_011518378.1:c.*54G>A XP_011516680.1:n.*54G>A
XM_011518378.2:c.*54G>A XP_011516680.1:n.*54G>A
XM_011518386.1:c.*62G>A XP_011516688.1:n.*62G>A
XM_011518391.1:c.*62G>A XP_011516693.1:n.*62G>A
XM_011518391.2:c.*62G>A XP_011516693.1:n.*62G>A
XM_017014464.1:c.1270G>A XP_016869953.1:p.Asp424Asn
XM_017014465.1:c.1270G>A XP_016869954.1:p.Asp424Asn
XM_017014467.1:c.1270G>A XP_016869956.1:p.Gly424Ser
XM_017014468.1:c.1270G>A XP_016869957.1:p.Gly424Ser
XM_017014469.1:c.1270G>A XP_016869958.1:p.Asp424Asn
XM_017014470.1:c.1270G>A XP_016869959.1:p.Asp424Asn
XR_001746242.2:n.1837G>A
XR_001746244.2:n.1665G>A
XR_001746245.1:n.1656G>A
XR_001746248.1:n.2749G>A
XR_002956770.1:n.1512G>A