Canonical Allele Identifier: CA397163150

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 3030131
• ClinVar RCV Id: RCV003899376
• gnomAD v4: 16-89284423-C-T
• MyVariant Identifiers: chr16:g.89350831C>T (hg19) ; chr16:g.89284423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89284423C>T , CM000678.2:g.89284423C>T	GRCh38
NC_000016.9:g.89350831C>T , CM000678.1:g.89350831C>T	GRCh37
NC_000016.8:g.87878332C>T	NCBI36
NG_032003.1:g.211139G>A
NG_032003.2:g.211139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301030.10:c.2119G>A MANE Select	ENSP00000301030.4:p.Glu707Lys
ENST00000330736.10:c.*1922G>A	ENSP00000330815.5:n.*1922G>A
ENST00000378330.7:c.2119G>A	ENSP00000367581.2:p.Glu707Lys
ENST00000642443.1:c.1744G>A	ENSP00000493644.1:p.Glu582Lys
ENST00000642600.1:c.2119G>A	ENSP00000495226.1:p.Glu707Lys
ENST00000644285.1:c.744+4105G>A	ENSP00000496476.1:n.744+4105G>A
ENST00000645212.1:n.3891G>A
ENST00000301030.8:c.2119G>A	ENSP00000301030.4:p.Glu707Lys
ENST00000330736.9:c.*1922G>A	ENSP00000330815.5:n.*1922G>A
ENST00000378330.6:c.2119G>A	ENSP00000367581.2:p.Glu707Lys
ENST00000562194.1:c.151+4105G>A
NM_001256182.1:c.2119G>A	NP_001243111.1:p.Glu707Lys
NM_001256183.1:c.2119G>A	NP_001243112.1:p.Glu707Lys
NM_013275.5:c.2119G>A	NP_037407.4:p.Glu707Lys
XM_006721181.1:c.2017G>A	XP_006721244.1:p.Glu673Lys
XM_006721184.2:c.1822G>A	XP_006721247.1:p.Glu608Lys
XM_011523051.1:c.2119G>A	XP_011521353.1:p.Glu707Lys
XM_011523052.1:c.2119G>A	XP_011521354.1:p.Glu707Lys
XM_011523053.1:c.2119G>A	XP_011521355.1:p.Glu707Lys
XM_011523054.1:c.2017G>A	XP_011521356.1:p.Glu673Lys
XM_011523055.1:c.2017G>A	XP_011521357.1:p.Glu673Lys
XM_011523056.1:c.1990G>A	XP_011521358.1:p.Glu664Lys
XM_011523057.1:c.2119G>A	XP_011521359.1:p.Glu707Lys
XM_011523051.3:c.2119G>A	XP_011521353.1:p.Glu707Lys
XM_011523053.2:c.2119G>A	XP_011521355.1:p.Glu707Lys
XM_011523054.2:c.2017G>A	XP_011521356.1:p.Glu673Lys
XM_011523055.2:c.2017G>A	XP_011521357.1:p.Glu673Lys
XM_011523056.2:c.1990G>A	XP_011521358.1:p.Glu664Lys
XM_011523057.2:c.2119G>A	XP_011521359.1:p.Glu707Lys
XM_017023182.2:c.2119G>A	XP_016878671.1:p.Glu707Lys
XM_017023183.1:c.2119G>A	XP_016878672.1:p.Glu707Lys
XM_017023184.1:c.2119G>A	XP_016878673.1:p.Glu707Lys
XM_017023185.1:c.2119G>A	XP_016878674.1:p.Glu707Lys
XM_017023186.1:c.2119G>A	XP_016878675.1:p.Glu707Lys
XM_017023187.1:c.2119G>A	XP_016878676.1:p.Glu707Lys
XM_024450244.1:c.2017G>A	XP_024306012.1:p.Glu673Lys
NM_013275.6:c.2119G>A MANE Select	NP_037407.4:p.Glu707Lys
NM_001256182.2:c.2119G>A	NP_001243111.1:p.Glu707Lys
NM_001256183.2:c.2119G>A	NP_001243112.1:p.Glu707Lys