Canonical Allele Identifier: CA379466233

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6609974T>A , CM000673.2:g.6609974T>A GRCh38
NC_000011.9:g.6631205T>A , CM000673.1:g.6631205T>A GRCh37
NC_000011.8:g.6587781T>A NCBI36
NG_029702.1:g.11242T>A , LRG_444:g.11242T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299421.9:c.1017T>A (ILK) MANE Select ENSP00000299421.4:p.Asp339Glu
ENST00000299424.9:c.*948A>T (TAF10) MANE Select ENSP00000299424.4:n.*948A>T
ENST00000299421.8:c.1017T>A (ILK) ENSP00000299421.3:p.Asp339Glu
ENST00000396751.6:c.1017T>A (ILK) ENSP00000379975.2:p.Asp339Glu
ENST00000420936.6:c.1017T>A (ILK) ENSP00000403487.2:p.Asp339Glu
ENST00000526318.2:c.328-629T>A (ILK) ENSP00000480597.1:n.328-629T>A
ENST00000526711.5:c.*728T>A (ILK) ENSP00000479932.1:n.*728T>A
ENST00000528784.5:n.890T>A (ILK)
ENST00000528995.5:c.834T>A (ILK) ENSP00000435323.1:p.Asp278Glu
ENST00000530016.5:n.1354T>A (ILK)
ENST00000532063.5:c.615T>A (ILK) ENSP00000434492.2:p.Asp205Glu
ENST00000537806.5:c.1110T>A (ILK) ENSP00000439606.2:p.Asp370Glu
ENST00000616342.1:n.1714A>T (TAF10)
NM_001014794.2:c.1017T>A (ILK) NP_001014794.1:p.Asp339Glu
NM_001014795.2:c.1017T>A (ILK) NP_001014795.1:p.Asp339Glu
NM_001278441.1:c.834T>A (ILK) NP_001265370.1:p.Asp278Glu
NM_001278442.1:c.615T>A (ILK) NP_001265371.1:p.Asp205Glu
NM_004517.3:c.1017T>A (ILK) NP_004508.1:p.Asp339Glu
XM_005252904.3:c.1017T>A (ILK) XP_005252961.1:p.Asp339Glu
XM_005252905.1:c.615T>A (ILK) XP_005252962.1:p.Asp205Glu
XM_011520065.1:c.1017T>A (ILK) XP_011518367.1:p.Asp339Glu
XM_005252904.5:c.1017T>A (ILK) XP_005252961.1:p.Asp339Glu
XM_005252905.3:c.615T>A (ILK) XP_005252962.1:p.Asp205Glu
XM_017017672.1:c.864T>A (ILK) XP_016873161.1:p.Asp288Glu
XM_024448494.1:c.1110T>A (ILK) XP_024304262.1:p.Asp370Glu
XM_024448495.1:c.1110T>A (ILK) XP_024304263.1:p.Asp370Glu
XM_024448496.1:c.1110T>A (ILK) XP_024304264.1:p.Asp370Glu
XM_024448497.1:c.1110T>A (ILK) XP_024304265.1:p.Asp370Glu
XM_024448498.1:c.864T>A (ILK) XP_024304266.1:p.Asp288Glu
XM_024448499.1:c.864T>A (ILK) XP_024304267.1:p.Asp288Glu
XM_024448500.1:c.708T>A (ILK) XP_024304268.1:p.Asp236Glu
NM_006284.4:c.*948A>T (TAF10) MANE Select NP_006275.1:n.*948A>T
NM_001014794.3:c.1017T>A (ILK) NP_001014794.1:p.Asp339Glu
NM_001014795.3:c.1017T>A (ILK) NP_001014795.1:p.Asp339Glu
NM_001278441.2:c.834T>A (ILK) NP_001265370.1:p.Asp278Glu
NM_004517.4:c.1017T>A (ILK) MANE Select NP_004508.1:p.Asp339Glu
NM_001278442.2:c.615T>A (ILK) NP_001265371.1:p.Asp205Glu