Canonical Allele Identifier: CA379466032

Linked Data

dbSNP Id: rs1397320741
gnomAD v2: 11-6631177-A-G
gnomAD v4: 11-6609946-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6609946A>G , CM000673.2:g.6609946A>G GRCh38
NC_000011.9:g.6631177A>G , CM000673.1:g.6631177A>G GRCh37
NC_000011.8:g.6587753A>G NCBI36
NG_029702.1:g.11214A>G , LRG_444:g.11214A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299421.9:c.989A>G (ILK) MANE Select ENSP00000299421.4:p.Asp330Gly
ENST00000299424.9:c.*976T>C (TAF10) MANE Select ENSP00000299424.4:n.*976T>C
ENST00000299421.8:c.989A>G (ILK) ENSP00000299421.3:p.Asp330Gly
ENST00000396751.6:c.989A>G (ILK) ENSP00000379975.2:p.Asp330Gly
ENST00000420936.6:c.989A>G (ILK) ENSP00000403487.2:p.Asp330Gly
ENST00000526318.2:c.328-657A>G (ILK) ENSP00000480597.1:n.328-657A>G
ENST00000526711.5:c.*700A>G (ILK) ENSP00000479932.1:n.*700A>G
ENST00000528784.5:n.862A>G (ILK)
ENST00000528995.5:c.806A>G (ILK) ENSP00000435323.1:p.Asp269Gly
ENST00000530016.5:n.1326A>G (ILK)
ENST00000532063.5:c.587A>G (ILK) ENSP00000434492.2:p.Asp196Gly
ENST00000537806.5:c.1082A>G (ILK) ENSP00000439606.2:p.Asp361Gly
ENST00000616342.1:n.1742T>C (TAF10)
NM_001014794.2:c.989A>G (ILK) NP_001014794.1:p.Asp330Gly
NM_001014795.2:c.989A>G (ILK) NP_001014795.1:p.Asp330Gly
NM_001278441.1:c.806A>G (ILK) NP_001265370.1:p.Asp269Gly
NM_001278442.1:c.587A>G (ILK) NP_001265371.1:p.Asp196Gly
NM_004517.3:c.989A>G (ILK) NP_004508.1:p.Asp330Gly
XM_005252904.3:c.989A>G (ILK) XP_005252961.1:p.Asp330Gly
XM_005252905.1:c.587A>G (ILK) XP_005252962.1:p.Asp196Gly
XM_011520065.1:c.989A>G (ILK) XP_011518367.1:p.Asp330Gly
XM_005252904.5:c.989A>G (ILK) XP_005252961.1:p.Asp330Gly
XM_005252905.3:c.587A>G (ILK) XP_005252962.1:p.Asp196Gly
XM_017017672.1:c.836A>G (ILK) XP_016873161.1:p.Asp279Gly
XM_024448494.1:c.1082A>G (ILK) XP_024304262.1:p.Asp361Gly
XM_024448495.1:c.1082A>G (ILK) XP_024304263.1:p.Asp361Gly
XM_024448496.1:c.1082A>G (ILK) XP_024304264.1:p.Asp361Gly
XM_024448497.1:c.1082A>G (ILK) XP_024304265.1:p.Asp361Gly
XM_024448498.1:c.836A>G (ILK) XP_024304266.1:p.Asp279Gly
XM_024448499.1:c.836A>G (ILK) XP_024304267.1:p.Asp279Gly
XM_024448500.1:c.680A>G (ILK) XP_024304268.1:p.Asp227Gly
NM_006284.4:c.*976T>C (TAF10) MANE Select NP_006275.1:n.*976T>C
NM_001014794.3:c.989A>G (ILK) NP_001014794.1:p.Asp330Gly
NM_001014795.3:c.989A>G (ILK) NP_001014795.1:p.Asp330Gly
NM_001278441.2:c.806A>G (ILK) NP_001265370.1:p.Asp269Gly
NM_004517.4:c.989A>G (ILK) MANE Select NP_004508.1:p.Asp330Gly
NM_001278442.2:c.587A>G (ILK) NP_001265371.1:p.Asp196Gly