Canonical Allele Identifier: CA397145398

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 429654
• ClinVar RCV Id: RCV000493206 ; RCV001251206 ; RCV003403140 ; RCV003766774
• dbSNP Id: rs1131691512
• MyVariant Identifiers: chr16:g.89335064A>C (hg19) ; chr16:g.89268656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89268656A>C , CM000678.2:g.89268656A>C	GRCh38
NC_000016.9:g.89335064A>C , CM000678.1:g.89335064A>C	GRCh37
NC_000016.8:g.87862565A>C	NCBI36
NG_032003.1:g.226906T>G
NG_032003.2:g.226906T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301030.10:c.7814T>G MANE Select	ENSP00000301030.4:p.Leu2605Arg
ENST00000330736.10:c.*7617T>G	ENSP00000330815.5:n.*7617T>G
ENST00000378330.7:c.7814T>G	ENSP00000367581.2:p.Leu2605Arg
ENST00000642600.1:c.7814T>G	ENSP00000495226.1:p.Leu2605Arg
ENST00000644285.1:c.1088T>G	ENSP00000496476.1:p.Leu363Arg
ENST00000301030.8:c.7814T>G	ENSP00000301030.4:p.Leu2605Arg
ENST00000330736.9:c.*7617T>G	ENSP00000330815.5:n.*7617T>G
ENST00000378330.6:c.7814T>G	ENSP00000367581.2:p.Leu2605Arg
ENST00000562194.1:c.495T>G
NM_001256182.1:c.7814T>G	NP_001243111.1:p.Leu2605Arg
NM_001256183.1:c.7814T>G	NP_001243112.1:p.Leu2605Arg
NM_013275.5:c.7814T>G	NP_037407.4:p.Leu2605Arg
XM_006721181.1:c.7712T>G	XP_006721244.1:p.Leu2571Arg
XM_006721184.2:c.7517T>G	XP_006721247.1:p.Leu2506Arg
XM_011523051.1:c.7814T>G	XP_011521353.1:p.Leu2605Arg
XM_011523052.1:c.7814T>G	XP_011521354.1:p.Leu2605Arg
XM_011523053.1:c.7814T>G	XP_011521355.1:p.Leu2605Arg
XM_011523054.1:c.7712T>G	XP_011521356.1:p.Leu2571Arg
XM_011523055.1:c.7712T>G	XP_011521357.1:p.Leu2571Arg
XM_011523056.1:c.7685T>G	XP_011521358.1:p.Leu2562Arg
XM_011523051.3:c.7814T>G	XP_011521353.1:p.Leu2605Arg
XM_011523053.2:c.7814T>G	XP_011521355.1:p.Leu2605Arg
XM_011523054.2:c.7712T>G	XP_011521356.1:p.Leu2571Arg
XM_011523055.2:c.7712T>G	XP_011521357.1:p.Leu2571Arg
XM_011523056.2:c.7685T>G	XP_011521358.1:p.Leu2562Arg
XM_017023182.2:c.7814T>G	XP_016878671.1:p.Leu2605Arg
XM_017023183.1:c.7814T>G	XP_016878672.1:p.Leu2605Arg
XM_017023184.1:c.7814T>G	XP_016878673.1:p.Leu2605Arg
XM_017023185.1:c.7814T>G	XP_016878674.1:p.Leu2605Arg
XM_017023186.1:c.7814T>G	XP_016878675.1:p.Leu2605Arg
XM_017023187.1:c.7814T>G	XP_016878676.1:p.Leu2605Arg
XM_024450244.1:c.7712T>G	XP_024306012.1:p.Leu2571Arg
NM_013275.6:c.7814T>G MANE Select	NP_037407.4:p.Leu2605Arg
NM_001256182.2:c.7814T>G	NP_001243111.1:p.Leu2605Arg
NM_001256183.2:c.7814T>G	NP_001243112.1:p.Leu2605Arg