Canonical Allele Identifier: CA5858248

Gene: ILK TAF10

Linked Data

• ClinVar Variation Id: 1769485
• ClinVar RCV Id: RCV003621644 ; RCV004058269
• dbSNP Id: rs566678782
• ExAC: 11:6631189 G / A
• gnomAD v2: 11-6631189-G-A
• gnomAD v3: 11-6609958-G-A
• gnomAD v4: 11-6609958-G-A
• COSMIC: COSM930785
• MyVariant Identifiers: chr11:g.6631189G>A (hg19) ; chr11:g.6609958G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299421.9:c.1001G>A (ILK) MANE Select	ENSP00000299421.4:p.Arg334Gln
ENST00000299424.9:c.*964C>T (TAF10) MANE Select	ENSP00000299424.4:n.*964C>T
ENST00000299421.8:c.1001G>A (ILK)	ENSP00000299421.3:p.Arg334Gln
ENST00000396751.6:c.1001G>A (ILK)	ENSP00000379975.2:p.Arg334Gln
ENST00000420936.6:c.1001G>A (ILK)	ENSP00000403487.2:p.Arg334Gln
ENST00000526318.2:c.328-645G>A (ILK)	ENSP00000480597.1:n.328-645G>A
ENST00000526711.5:c.*712G>A (ILK)	ENSP00000479932.1:n.*712G>A
ENST00000528784.5:n.874G>A (ILK)
ENST00000528995.5:c.818G>A (ILK)	ENSP00000435323.1:p.Arg273Gln
ENST00000530016.5:n.1338G>A (ILK)
ENST00000532063.5:c.599G>A (ILK)	ENSP00000434492.2:p.Arg200Gln
ENST00000537806.5:c.1094G>A (ILK)	ENSP00000439606.2:p.Arg365Gln
ENST00000616342.1:n.1730C>T (TAF10)
NM_001014794.2:c.1001G>A (ILK)	NP_001014794.1:p.Arg334Gln
NM_001014795.2:c.1001G>A (ILK)	NP_001014795.1:p.Arg334Gln
NM_001278441.1:c.818G>A (ILK)	NP_001265370.1:p.Arg273Gln
NM_001278442.1:c.599G>A (ILK)	NP_001265371.1:p.Arg200Gln
NM_004517.3:c.1001G>A (ILK)	NP_004508.1:p.Arg334Gln
XM_005252904.3:c.1001G>A (ILK)	XP_005252961.1:p.Arg334Gln
XM_005252905.1:c.599G>A (ILK)	XP_005252962.1:p.Arg200Gln
XM_011520065.1:c.1001G>A (ILK)	XP_011518367.1:p.Arg334Gln
XM_005252904.5:c.1001G>A (ILK)	XP_005252961.1:p.Arg334Gln
XM_005252905.3:c.599G>A (ILK)	XP_005252962.1:p.Arg200Gln
XM_017017672.1:c.848G>A (ILK)	XP_016873161.1:p.Arg283Gln
XM_024448494.1:c.1094G>A (ILK)	XP_024304262.1:p.Arg365Gln
XM_024448495.1:c.1094G>A (ILK)	XP_024304263.1:p.Arg365Gln
XM_024448496.1:c.1094G>A (ILK)	XP_024304264.1:p.Arg365Gln
XM_024448497.1:c.1094G>A (ILK)	XP_024304265.1:p.Arg365Gln
XM_024448498.1:c.848G>A (ILK)	XP_024304266.1:p.Arg283Gln
XM_024448499.1:c.848G>A (ILK)	XP_024304267.1:p.Arg283Gln
XM_024448500.1:c.692G>A (ILK)	XP_024304268.1:p.Arg231Gln
NM_006284.4:c.*964C>T (TAF10) MANE Select	NP_006275.1:n.*964C>T
NM_001014794.3:c.1001G>A (ILK)	NP_001014794.1:p.Arg334Gln
NM_001014795.3:c.1001G>A (ILK)	NP_001014795.1:p.Arg334Gln
NM_001278441.2:c.818G>A (ILK)	NP_001265370.1:p.Arg273Gln
NM_004517.4:c.1001G>A (ILK) MANE Select	NP_004508.1:p.Arg334Gln
NM_001278442.2:c.599G>A (ILK)	NP_001265371.1:p.Arg200Gln