Canonical Allele Identifier: CA379466461

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6610007G>T , CM000673.2:g.6610007G>T GRCh38
NC_000011.9:g.6631238G>T , CM000673.1:g.6631238G>T GRCh37
NC_000011.8:g.6587814G>T NCBI36
NG_029702.1:g.11275G>T , LRG_444:g.11275G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299421.9:c.1050G>T (ILK) MANE Select ENSP00000299421.4:p.Met350Ile
ENST00000299424.9:c.*915C>A (TAF10) MANE Select ENSP00000299424.4:n.*915C>A
ENST00000299421.8:c.1050G>T (ILK) ENSP00000299421.3:p.Met350Ile
ENST00000396751.6:c.1050G>T (ILK) ENSP00000379975.2:p.Met350Ile
ENST00000420936.6:c.1050G>T (ILK) ENSP00000403487.2:p.Met350Ile
ENST00000526318.2:c.328-596G>T (ILK) ENSP00000480597.1:n.328-596G>T
ENST00000526711.5:c.*761G>T (ILK) ENSP00000479932.1:n.*761G>T
ENST00000528784.5:n.923G>T (ILK)
ENST00000528995.5:c.867G>T (ILK) ENSP00000435323.1:p.Met289Ile
ENST00000530016.5:n.1387G>T (ILK)
ENST00000532063.5:c.648G>T (ILK) ENSP00000434492.2:p.Met216Ile
ENST00000537806.5:c.1143G>T (ILK) ENSP00000439606.2:p.Met381Ile
ENST00000616342.1:n.1681C>A (TAF10)
NM_001014794.2:c.1050G>T (ILK) NP_001014794.1:p.Met350Ile
NM_001014795.2:c.1050G>T (ILK) NP_001014795.1:p.Met350Ile
NM_001278441.1:c.867G>T (ILK) NP_001265370.1:p.Met289Ile
NM_001278442.1:c.648G>T (ILK) NP_001265371.1:p.Met216Ile
NM_004517.3:c.1050G>T (ILK) NP_004508.1:p.Met350Ile
XM_005252904.3:c.1050G>T (ILK) XP_005252961.1:p.Met350Ile
XM_005252905.1:c.648G>T (ILK) XP_005252962.1:p.Met216Ile
XM_011520065.1:c.1050G>T (ILK) XP_011518367.1:p.Met350Ile
XM_005252904.5:c.1050G>T (ILK) XP_005252961.1:p.Met350Ile
XM_005252905.3:c.648G>T (ILK) XP_005252962.1:p.Met216Ile
XM_017017672.1:c.897G>T (ILK) XP_016873161.1:p.Met299Ile
XM_024448494.1:c.1143G>T (ILK) XP_024304262.1:p.Met381Ile
XM_024448495.1:c.1143G>T (ILK) XP_024304263.1:p.Met381Ile
XM_024448496.1:c.1143G>T (ILK) XP_024304264.1:p.Met381Ile
XM_024448497.1:c.1143G>T (ILK) XP_024304265.1:p.Met381Ile
XM_024448498.1:c.897G>T (ILK) XP_024304266.1:p.Met299Ile
XM_024448499.1:c.897G>T (ILK) XP_024304267.1:p.Met299Ile
XM_024448500.1:c.741G>T (ILK) XP_024304268.1:p.Met247Ile
NM_006284.4:c.*915C>A (TAF10) MANE Select NP_006275.1:n.*915C>A
NM_001014794.3:c.1050G>T (ILK) NP_001014794.1:p.Met350Ile
NM_001014795.3:c.1050G>T (ILK) NP_001014795.1:p.Met350Ile
NM_001278441.2:c.867G>T (ILK) NP_001265370.1:p.Met289Ile
NM_004517.4:c.1050G>T (ILK) MANE Select NP_004508.1:p.Met350Ile
NM_001278442.2:c.648G>T (ILK) NP_001265371.1:p.Met216Ile