Canonical Allele Identifier: CA5858250

Gene: ILK TAF10

Linked Data

• ClinVar Variation Id: 1351868
• ClinVar RCV Id: RCV002047169
• dbSNP Id: rs781099551
• ExAC: 11:6631210 A / G
• gnomAD v2: 11-6631210-A-G
• gnomAD v3: 11-6609979-A-G
• gnomAD v4: 11-6609979-A-G
• MyVariant Identifiers: chr11:g.6631210A>G (hg19) ; chr11:g.6609979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6609979A>G , CM000673.2:g.6609979A>G	GRCh38
NC_000011.9:g.6631210A>G , CM000673.1:g.6631210A>G	GRCh37
NC_000011.8:g.6587786A>G	NCBI36
NG_029702.1:g.11247A>G , LRG_444:g.11247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299421.9:c.1022A>G (ILK) MANE Select	ENSP00000299421.4:p.Lys341Arg
ENST00000299424.9:c.*943T>C (TAF10) MANE Select	ENSP00000299424.4:n.*943T>C
ENST00000299421.8:c.1022A>G (ILK)	ENSP00000299421.3:p.Lys341Arg
ENST00000396751.6:c.1022A>G (ILK)	ENSP00000379975.2:p.Lys341Arg
ENST00000420936.6:c.1022A>G (ILK)	ENSP00000403487.2:p.Lys341Arg
ENST00000526318.2:c.328-624A>G (ILK)	ENSP00000480597.1:n.328-624A>G
ENST00000526711.5:c.*733A>G (ILK)	ENSP00000479932.1:n.*733A>G
ENST00000528784.5:n.895A>G (ILK)
ENST00000528995.5:c.839A>G (ILK)	ENSP00000435323.1:p.Lys280Arg
ENST00000530016.5:n.1359A>G (ILK)
ENST00000532063.5:c.620A>G (ILK)	ENSP00000434492.2:p.Lys207Arg
ENST00000537806.5:c.1115A>G (ILK)	ENSP00000439606.2:p.Lys372Arg
ENST00000616342.1:n.1709T>C (TAF10)
NM_001014794.2:c.1022A>G (ILK)	NP_001014794.1:p.Lys341Arg
NM_001014795.2:c.1022A>G (ILK)	NP_001014795.1:p.Lys341Arg
NM_001278441.1:c.839A>G (ILK)	NP_001265370.1:p.Lys280Arg
NM_001278442.1:c.620A>G (ILK)	NP_001265371.1:p.Lys207Arg
NM_004517.3:c.1022A>G (ILK)	NP_004508.1:p.Lys341Arg
XM_005252904.3:c.1022A>G (ILK)	XP_005252961.1:p.Lys341Arg
XM_005252905.1:c.620A>G (ILK)	XP_005252962.1:p.Lys207Arg
XM_011520065.1:c.1022A>G (ILK)	XP_011518367.1:p.Lys341Arg
XM_005252904.5:c.1022A>G (ILK)	XP_005252961.1:p.Lys341Arg
XM_005252905.3:c.620A>G (ILK)	XP_005252962.1:p.Lys207Arg
XM_017017672.1:c.869A>G (ILK)	XP_016873161.1:p.Lys290Arg
XM_024448494.1:c.1115A>G (ILK)	XP_024304262.1:p.Lys372Arg
XM_024448495.1:c.1115A>G (ILK)	XP_024304263.1:p.Lys372Arg
XM_024448496.1:c.1115A>G (ILK)	XP_024304264.1:p.Lys372Arg
XM_024448497.1:c.1115A>G (ILK)	XP_024304265.1:p.Lys372Arg
XM_024448498.1:c.869A>G (ILK)	XP_024304266.1:p.Lys290Arg
XM_024448499.1:c.869A>G (ILK)	XP_024304267.1:p.Lys290Arg
XM_024448500.1:c.713A>G (ILK)	XP_024304268.1:p.Lys238Arg
NM_006284.4:c.*943T>C (TAF10) MANE Select	NP_006275.1:n.*943T>C
NM_001014794.3:c.1022A>G (ILK)	NP_001014794.1:p.Lys341Arg
NM_001014795.3:c.1022A>G (ILK)	NP_001014795.1:p.Lys341Arg
NM_001278441.2:c.839A>G (ILK)	NP_001265370.1:p.Lys280Arg
NM_004517.4:c.1022A>G (ILK) MANE Select	NP_004508.1:p.Lys341Arg
NM_001278442.2:c.620A>G (ILK)	NP_001265371.1:p.Lys207Arg