Canonical Allele Identifier: CA379466118

Linked Data

gnomAD v4: 11-6609958-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6609958G>C , CM000673.2:g.6609958G>C GRCh38
NC_000011.9:g.6631189G>C , CM000673.1:g.6631189G>C GRCh37
NC_000011.8:g.6587765G>C NCBI36
NG_029702.1:g.11226G>C , LRG_444:g.11226G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299421.9:c.1001G>C (ILK) MANE Select ENSP00000299421.4:p.Arg334Pro
ENST00000299424.9:c.*964C>G (TAF10) MANE Select ENSP00000299424.4:n.*964C>G
ENST00000299421.8:c.1001G>C (ILK) ENSP00000299421.3:p.Arg334Pro
ENST00000396751.6:c.1001G>C (ILK) ENSP00000379975.2:p.Arg334Pro
ENST00000420936.6:c.1001G>C (ILK) ENSP00000403487.2:p.Arg334Pro
ENST00000526318.2:c.328-645G>C (ILK) ENSP00000480597.1:n.328-645G>C
ENST00000526711.5:c.*712G>C (ILK) ENSP00000479932.1:n.*712G>C
ENST00000528784.5:n.874G>C (ILK)
ENST00000528995.5:c.818G>C (ILK) ENSP00000435323.1:p.Arg273Pro
ENST00000530016.5:n.1338G>C (ILK)
ENST00000532063.5:c.599G>C (ILK) ENSP00000434492.2:p.Arg200Pro
ENST00000537806.5:c.1094G>C (ILK) ENSP00000439606.2:p.Arg365Pro
ENST00000616342.1:n.1730C>G (TAF10)
NM_001014794.2:c.1001G>C (ILK) NP_001014794.1:p.Arg334Pro
NM_001014795.2:c.1001G>C (ILK) NP_001014795.1:p.Arg334Pro
NM_001278441.1:c.818G>C (ILK) NP_001265370.1:p.Arg273Pro
NM_001278442.1:c.599G>C (ILK) NP_001265371.1:p.Arg200Pro
NM_004517.3:c.1001G>C (ILK) NP_004508.1:p.Arg334Pro
XM_005252904.3:c.1001G>C (ILK) XP_005252961.1:p.Arg334Pro
XM_005252905.1:c.599G>C (ILK) XP_005252962.1:p.Arg200Pro
XM_011520065.1:c.1001G>C (ILK) XP_011518367.1:p.Arg334Pro
XM_005252904.5:c.1001G>C (ILK) XP_005252961.1:p.Arg334Pro
XM_005252905.3:c.599G>C (ILK) XP_005252962.1:p.Arg200Pro
XM_017017672.1:c.848G>C (ILK) XP_016873161.1:p.Arg283Pro
XM_024448494.1:c.1094G>C (ILK) XP_024304262.1:p.Arg365Pro
XM_024448495.1:c.1094G>C (ILK) XP_024304263.1:p.Arg365Pro
XM_024448496.1:c.1094G>C (ILK) XP_024304264.1:p.Arg365Pro
XM_024448497.1:c.1094G>C (ILK) XP_024304265.1:p.Arg365Pro
XM_024448498.1:c.848G>C (ILK) XP_024304266.1:p.Arg283Pro
XM_024448499.1:c.848G>C (ILK) XP_024304267.1:p.Arg283Pro
XM_024448500.1:c.692G>C (ILK) XP_024304268.1:p.Arg231Pro
NM_006284.4:c.*964C>G (TAF10) MANE Select NP_006275.1:n.*964C>G
NM_001014794.3:c.1001G>C (ILK) NP_001014794.1:p.Arg334Pro
NM_001014795.3:c.1001G>C (ILK) NP_001014795.1:p.Arg334Pro
NM_001278441.2:c.818G>C (ILK) NP_001265370.1:p.Arg273Pro
NM_004517.4:c.1001G>C (ILK) MANE Select NP_004508.1:p.Arg334Pro
NM_001278442.2:c.599G>C (ILK) NP_001265371.1:p.Arg200Pro