Canonical Allele Identifier: CA217315817

Gene: ILK TAF10

Linked Data

• ClinVar Variation Id: 1515351
• ClinVar RCV Id: RCV002021027
• dbSNP Id: rs989434950
• gnomAD v4: 11-6610009-A-G
• MyVariant Identifiers: chr11:g.6631240A>G (hg19) ; chr11:g.6610009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6610009A>G , CM000673.2:g.6610009A>G	GRCh38
NC_000011.9:g.6631240A>G , CM000673.1:g.6631240A>G	GRCh37
NC_000011.8:g.6587816A>G	NCBI36
NG_029702.1:g.11277A>G , LRG_444:g.11277A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299421.9:c.1052A>G (ILK) MANE Select	ENSP00000299421.4:p.Tyr351Cys
ENST00000299424.9:c.*913T>C (TAF10) MANE Select	ENSP00000299424.4:n.*913T>C
ENST00000299421.8:c.1052A>G (ILK)	ENSP00000299421.3:p.Tyr351Cys
ENST00000396751.6:c.1052A>G (ILK)	ENSP00000379975.2:p.Tyr351Cys
ENST00000420936.6:c.1052A>G (ILK)	ENSP00000403487.2:p.Tyr351Cys
ENST00000526318.2:c.328-594A>G (ILK)	ENSP00000480597.1:n.328-594A>G
ENST00000526711.5:c.*763A>G (ILK)	ENSP00000479932.1:n.*763A>G
ENST00000528784.5:n.925A>G (ILK)
ENST00000528995.5:c.869A>G (ILK)	ENSP00000435323.1:p.Tyr290Cys
ENST00000530016.5:n.1389A>G (ILK)
ENST00000532063.5:c.650A>G (ILK)	ENSP00000434492.2:p.Tyr217Cys
ENST00000537806.5:c.1145A>G (ILK)	ENSP00000439606.2:p.Tyr382Cys
ENST00000616342.1:n.1679T>C (TAF10)
NM_001014794.2:c.1052A>G (ILK)	NP_001014794.1:p.Tyr351Cys
NM_001014795.2:c.1052A>G (ILK)	NP_001014795.1:p.Tyr351Cys
NM_001278441.1:c.869A>G (ILK)	NP_001265370.1:p.Tyr290Cys
NM_001278442.1:c.650A>G (ILK)	NP_001265371.1:p.Tyr217Cys
NM_004517.3:c.1052A>G (ILK)	NP_004508.1:p.Tyr351Cys
XM_005252904.3:c.1052A>G (ILK)	XP_005252961.1:p.Tyr351Cys
XM_005252905.1:c.650A>G (ILK)	XP_005252962.1:p.Tyr217Cys
XM_011520065.1:c.1052A>G (ILK)	XP_011518367.1:p.Tyr351Cys
XM_005252904.5:c.1052A>G (ILK)	XP_005252961.1:p.Tyr351Cys
XM_005252905.3:c.650A>G (ILK)	XP_005252962.1:p.Tyr217Cys
XM_017017672.1:c.899A>G (ILK)	XP_016873161.1:p.Tyr300Cys
XM_024448494.1:c.1145A>G (ILK)	XP_024304262.1:p.Tyr382Cys
XM_024448495.1:c.1145A>G (ILK)	XP_024304263.1:p.Tyr382Cys
XM_024448496.1:c.1145A>G (ILK)	XP_024304264.1:p.Tyr382Cys
XM_024448497.1:c.1145A>G (ILK)	XP_024304265.1:p.Tyr382Cys
XM_024448498.1:c.899A>G (ILK)	XP_024304266.1:p.Tyr300Cys
XM_024448499.1:c.899A>G (ILK)	XP_024304267.1:p.Tyr300Cys
XM_024448500.1:c.743A>G (ILK)	XP_024304268.1:p.Tyr248Cys
NM_006284.4:c.*913T>C (TAF10) MANE Select	NP_006275.1:n.*913T>C
NM_001014794.3:c.1052A>G (ILK)	NP_001014794.1:p.Tyr351Cys
NM_001014795.3:c.1052A>G (ILK)	NP_001014795.1:p.Tyr351Cys
NM_001278441.2:c.869A>G (ILK)	NP_001265370.1:p.Tyr290Cys
NM_004517.4:c.1052A>G (ILK) MANE Select	NP_004508.1:p.Tyr351Cys
NM_001278442.2:c.650A>G (ILK)	NP_001265371.1:p.Tyr217Cys