Canonical Allele Identifier: CA5858257

Gene: ILK TAF10

Linked Data

• ClinVar Variation Id: 1317930
• ClinVar RCV Id: RCV001769937 ; RCV002074033
• dbSNP Id: rs199558648
• ExAC: 11:6631254 G / A
• gnomAD v2: 11-6631254-G-A
• gnomAD v3: 11-6610023-G-A
• gnomAD v4: 11-6610023-G-A
• MyVariant Identifiers: chr11:g.6631254G>A (hg19) ; chr11:g.6610023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6610023G>A , CM000673.2:g.6610023G>A	GRCh38
NC_000011.9:g.6631254G>A , CM000673.1:g.6631254G>A	GRCh37
NC_000011.8:g.6587830G>A	NCBI36
NG_029702.1:g.11291G>A , LRG_444:g.11291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299421.9:c.1066G>A (ILK) MANE Select	ENSP00000299421.4:p.Val356Ile
ENST00000299424.9:c.*899C>T (TAF10) MANE Select	ENSP00000299424.4:n.*899C>T
ENST00000299421.8:c.1066G>A (ILK)	ENSP00000299421.3:p.Val356Ile
ENST00000396751.6:c.1066G>A (ILK)	ENSP00000379975.2:p.Val356Ile
ENST00000420936.6:c.1066G>A (ILK)	ENSP00000403487.2:p.Val356Ile
ENST00000526318.2:c.328-580G>A (ILK)	ENSP00000480597.1:n.328-580G>A
ENST00000526711.5:c.*777G>A (ILK)	ENSP00000479932.1:n.*777G>A
ENST00000528784.5:n.939G>A (ILK)
ENST00000528995.5:c.883G>A (ILK)	ENSP00000435323.1:p.Val295Ile
ENST00000530016.5:n.1403G>A (ILK)
ENST00000532063.5:c.664G>A (ILK)	ENSP00000434492.2:p.Val222Ile
ENST00000537806.5:c.1159G>A (ILK)	ENSP00000439606.2:p.Val387Ile
ENST00000616342.1:n.1665C>T (TAF10)
NM_001014794.2:c.1066G>A (ILK)	NP_001014794.1:p.Val356Ile
NM_001014795.2:c.1066G>A (ILK)	NP_001014795.1:p.Val356Ile
NM_001278441.1:c.883G>A (ILK)	NP_001265370.1:p.Val295Ile
NM_001278442.1:c.664G>A (ILK)	NP_001265371.1:p.Val222Ile
NM_004517.3:c.1066G>A (ILK)	NP_004508.1:p.Val356Ile
XM_005252904.3:c.1066G>A (ILK)	XP_005252961.1:p.Val356Ile
XM_005252905.1:c.664G>A (ILK)	XP_005252962.1:p.Val222Ile
XM_011520065.1:c.1066G>A (ILK)	XP_011518367.1:p.Val356Ile
XM_005252904.5:c.1066G>A (ILK)	XP_005252961.1:p.Val356Ile
XM_005252905.3:c.664G>A (ILK)	XP_005252962.1:p.Val222Ile
XM_017017672.1:c.913G>A (ILK)	XP_016873161.1:p.Val305Ile
XM_024448494.1:c.1159G>A (ILK)	XP_024304262.1:p.Val387Ile
XM_024448495.1:c.1159G>A (ILK)	XP_024304263.1:p.Val387Ile
XM_024448496.1:c.1159G>A (ILK)	XP_024304264.1:p.Val387Ile
XM_024448497.1:c.1159G>A (ILK)	XP_024304265.1:p.Val387Ile
XM_024448498.1:c.913G>A (ILK)	XP_024304266.1:p.Val305Ile
XM_024448499.1:c.913G>A (ILK)	XP_024304267.1:p.Val305Ile
XM_024448500.1:c.757G>A (ILK)	XP_024304268.1:p.Val253Ile
NM_006284.4:c.*899C>T (TAF10) MANE Select	NP_006275.1:n.*899C>T
NM_001014794.3:c.1066G>A (ILK)	NP_001014794.1:p.Val356Ile
NM_001014795.3:c.1066G>A (ILK)	NP_001014795.1:p.Val356Ile
NM_001278441.2:c.883G>A (ILK)	NP_001265370.1:p.Val295Ile
NM_004517.4:c.1066G>A (ILK) MANE Select	NP_004508.1:p.Val356Ile
NM_001278442.2:c.664G>A (ILK)	NP_001265371.1:p.Val222Ile