Canonical Allele Identifier: CA10603429
Gene: ANKRD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 280583
ClinVar RCV Id: RCV000286773
dbSNP Id: rs886041760
MyVariant Identifiers: chr16:g.89350621C>A (hg19) chr16:g.89284213C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89284213C>A , CM000678.2:g.89284213C>A GRCh38
NC_000016.9:g.89350621C>A , CM000678.1:g.89350621C>A GRCh37
NC_000016.8:g.87878122C>A NCBI36
NG_032003.1:g.211349G>T
NG_032003.2:g.211349G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301030.10:c.2329G>T MANE Select ENSP00000301030.4:p.Glu777Ter
ENST00000330736.10:c.*2132G>T ENSP00000330815.5:n.*2132G>T
ENST00000378330.7:c.2329G>T ENSP00000367581.2:p.Glu777Ter
ENST00000642443.1:c.1954G>T ENSP00000493644.1:p.Glu652Ter
ENST00000642600.1:c.2329G>T ENSP00000495226.1:p.Glu777Ter
ENST00000644285.1:c.744+4315G>T ENSP00000496476.1:n.744+4315G>T
ENST00000301030.8:c.2329G>T ENSP00000301030.4:p.Glu777Ter
ENST00000330736.9:c.*2132G>T ENSP00000330815.5:n.*2132G>T
ENST00000378330.6:c.2329G>T ENSP00000367581.2:p.Glu777Ter
ENST00000562194.1:c.151+4315G>T
NM_001256182.1:c.2329G>T NP_001243111.1:p.Glu777Ter
NM_001256183.1:c.2329G>T NP_001243112.1:p.Glu777Ter
NM_013275.5:c.2329G>T NP_037407.4:p.Glu777Ter
XM_006721181.1:c.2227G>T XP_006721244.1:p.Glu743Ter
XM_006721184.2:c.2032G>T XP_006721247.1:p.Glu678Ter
XM_011523051.1:c.2329G>T XP_011521353.1:p.Glu777Ter
XM_011523052.1:c.2329G>T XP_011521354.1:p.Glu777Ter
XM_011523053.1:c.2329G>T XP_011521355.1:p.Glu777Ter
XM_011523054.1:c.2227G>T XP_011521356.1:p.Glu743Ter
XM_011523055.1:c.2227G>T XP_011521357.1:p.Glu743Ter
XM_011523056.1:c.2200G>T XP_011521358.1:p.Glu734Ter
XM_011523057.1:c.2329G>T XP_011521359.1:p.Glu777Ter
XM_011523051.3:c.2329G>T XP_011521353.1:p.Glu777Ter
XM_011523053.2:c.2329G>T XP_011521355.1:p.Glu777Ter
XM_011523054.2:c.2227G>T XP_011521356.1:p.Glu743Ter
XM_011523055.2:c.2227G>T XP_011521357.1:p.Glu743Ter
XM_011523056.2:c.2200G>T XP_011521358.1:p.Glu734Ter
XM_011523057.2:c.2329G>T XP_011521359.1:p.Glu777Ter
XM_017023182.2:c.2329G>T XP_016878671.1:p.Glu777Ter
XM_017023183.1:c.2329G>T XP_016878672.1:p.Glu777Ter
XM_017023184.1:c.2329G>T XP_016878673.1:p.Glu777Ter
XM_017023185.1:c.2329G>T XP_016878674.1:p.Glu777Ter
XM_017023186.1:c.2329G>T XP_016878675.1:p.Glu777Ter
XM_017023187.1:c.2329G>T XP_016878676.1:p.Glu777Ter
XM_024450244.1:c.2227G>T XP_024306012.1:p.Glu743Ter
NM_013275.6:c.2329G>T MANE Select NP_037407.4:p.Glu777Ter
NM_001256182.2:c.2329G>T NP_001243111.1:p.Glu777Ter
NM_001256183.2:c.2329G>T NP_001243112.1:p.Glu777Ter
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