Canonical Allele Identifier: CA232169

Gene: ILK TAF10

Linked Data

• ClinVar Variation Id: 91924
• ClinVar RCV Id: RCV000122481
• dbSNP Id: rs386352317
• MyVariant Identifiers: chr11:g.6631208C>T (hg19) ; chr11:g.6609977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6609977C>T , CM000673.2:g.6609977C>T	GRCh38
NC_000011.9:g.6631208C>T , CM000673.1:g.6631208C>T	GRCh37
NC_000011.8:g.6587784C>T	NCBI36
NG_029702.1:g.11245C>T , LRG_444:g.11245C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299421.9:c.1020C>T (ILK) MANE Select	ENSP00000299421.4:p.Val340=
ENST00000299424.9:c.*945G>A (TAF10) MANE Select	ENSP00000299424.4:n.*945G>A
ENST00000299421.8:c.1020C>T (ILK)	ENSP00000299421.3:p.Val340=
ENST00000396751.6:c.1020C>T (ILK)	ENSP00000379975.2:p.Val340=
ENST00000420936.6:c.1020C>T (ILK)	ENSP00000403487.2:p.Val340=
ENST00000526318.2:c.328-626C>T (ILK)	ENSP00000480597.1:n.328-626C>T
ENST00000526711.5:c.*731C>T (ILK)	ENSP00000479932.1:n.*731C>T
ENST00000528784.5:n.893C>T (ILK)
ENST00000528995.5:c.837C>T (ILK)	ENSP00000435323.1:p.Val279=
ENST00000530016.5:n.1357C>T (ILK)
ENST00000532063.5:c.618C>T (ILK)	ENSP00000434492.2:p.Val206=
ENST00000537806.5:c.1113C>T (ILK)	ENSP00000439606.2:p.Val371=
ENST00000616342.1:n.1711G>A (TAF10)
NM_001014794.2:c.1020C>T (ILK)	NP_001014794.1:p.Val340=
NM_001014795.2:c.1020C>T (ILK)	NP_001014795.1:p.Val340=
NM_001278441.1:c.837C>T (ILK)	NP_001265370.1:p.Val279=
NM_001278442.1:c.618C>T (ILK)	NP_001265371.1:p.Val206=
NM_004517.3:c.1020C>T (ILK)	NP_004508.1:p.Val340=
XM_005252904.3:c.1020C>T (ILK)	XP_005252961.1:p.Val340=
XM_005252905.1:c.618C>T (ILK)	XP_005252962.1:p.Val206=
XM_011520065.1:c.1020C>T (ILK)	XP_011518367.1:p.Val340=
XM_005252904.5:c.1020C>T (ILK)	XP_005252961.1:p.Val340=
XM_005252905.3:c.618C>T (ILK)	XP_005252962.1:p.Val206=
XM_017017672.1:c.867C>T (ILK)	XP_016873161.1:p.Val289=
XM_024448494.1:c.1113C>T (ILK)	XP_024304262.1:p.Val371=
XM_024448495.1:c.1113C>T (ILK)	XP_024304263.1:p.Val371=
XM_024448496.1:c.1113C>T (ILK)	XP_024304264.1:p.Val371=
XM_024448497.1:c.1113C>T (ILK)	XP_024304265.1:p.Val371=
XM_024448498.1:c.867C>T (ILK)	XP_024304266.1:p.Val289=
XM_024448499.1:c.867C>T (ILK)	XP_024304267.1:p.Val289=
XM_024448500.1:c.711C>T (ILK)	XP_024304268.1:p.Val237=
NM_006284.4:c.*945G>A (TAF10) MANE Select	NP_006275.1:n.*945G>A
NM_001014794.3:c.1020C>T (ILK)	NP_001014794.1:p.Val340=
NM_001014795.3:c.1020C>T (ILK)	NP_001014795.1:p.Val340=
NM_001278441.2:c.837C>T (ILK)	NP_001265370.1:p.Val279=
NM_004517.4:c.1020C>T (ILK) MANE Select	NP_004508.1:p.Val340=
NM_001278442.2:c.618C>T (ILK)	NP_001265371.1:p.Val206=