Canonical Allele Identifier: CA397166614
Community Standard Title: NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn)
Gene: ANKRD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89288528C>G , CM000678.2:g.89288528C>G GRCh38
NC_000016.9:g.89354936C>G , CM000678.1:g.89354936C>G GRCh37
NC_000016.8:g.87882437C>G NCBI36
NG_032003.1:g.207034G>C
NG_032003.2:g.207034G>C

Transcript Alleles

HGVS Amino-acid Change
NM_013275.6:c.744G>C MANE Select NP_037407.4:p.Lys248Asn
ENST00000301030.10:c.744G>C MANE Select ENSP00000301030.4:p.Lys248Asn
NM_001256182.1:c.744G>C NP_001243111.1:p.Lys248Asn
NM_001256182.2:c.744G>C NP_001243111.1:p.Lys248Asn
NM_001256183.1:c.744G>C NP_001243112.1:p.Lys248Asn
NM_001256183.2:c.744G>C NP_001243112.1:p.Lys248Asn
NM_013275.5:c.744G>C NP_037407.4:p.Lys248Asn
NR_045839.1:n.1575G>C
NR_045839.2:n.1575G>C
ENST00000301030.8:c.744G>C ENSP00000301030.4:p.Lys248Asn
ENST00000330736.10:c.*547G>C ENSP00000330815.5:n.*547G>C
ENST00000330736.9:c.*547G>C ENSP00000330815.5:n.*547G>C
ENST00000378330.6:c.744G>C ENSP00000367581.2:p.Lys248Asn
ENST00000378330.7:c.744G>C ENSP00000367581.2:p.Lys248Asn
ENST00000378332.6:c.*1006G>C ENSP00000367583.2:n.*1006G>C
ENST00000378332.7:c.*1006G>C ENSP00000367583.2:n.*1006G>C
ENST00000562194.1:c.151G>C
ENST00000562275.5:c.*547G>C ENSP00000454550.1:n.*547G>C
ENST00000562275.6:c.*547G>C ENSP00000454550.1:n.*547G>C
ENST00000567699.2:n.444-2342G>C
ENST00000568100.2:n.450G>C
ENST00000613312.4:c.744G>C ENSP00000478018.1:p.Lys248Asn
ENST00000642333.1:c.744G>C ENSP00000496651.1:p.Lys248Asn
ENST00000642443.1:c.369G>C ENSP00000493644.1:p.Lys123Asn
ENST00000642600.1:c.744G>C ENSP00000495226.1:p.Lys248Asn
ENST00000642695.1:c.744G>C ENSP00000495449.1:p.Lys248Asn
ENST00000643964.1:c.*547G>C ENSP00000495181.1:n.*547G>C
ENST00000644285.1:c.744G>C ENSP00000496476.1:p.Lys248Asn
ENST00000644784.1:c.744G>C ENSP00000496419.1:p.Lys248Asn
ENST00000645212.1:n.175G>C
ENST00000646345.1:n.736G>C
ENST00000646838.1:c.744G>C ENSP00000495124.1:p.Lys248Asn
ENST00000646975.1:c.744G>C ENSP00000495608.1:p.Lys248Asn
XM_006721181.1:c.642G>C XP_006721244.1:p.Lys214Asn
XM_006721184.2:c.447G>C XP_006721247.1:p.Lys149Asn
XM_011523051.1:c.744G>C XP_011521353.1:p.Lys248Asn
XM_011523051.3:c.744G>C XP_011521353.1:p.Lys248Asn
XM_011523052.1:c.744G>C XP_011521354.1:p.Lys248Asn
XM_011523053.1:c.744G>C XP_011521355.1:p.Lys248Asn
XM_011523053.2:c.744G>C XP_011521355.1:p.Lys248Asn
XM_011523054.1:c.642G>C XP_011521356.1:p.Lys214Asn
XM_011523054.2:c.642G>C XP_011521356.1:p.Lys214Asn
XM_011523055.1:c.642G>C XP_011521357.1:p.Lys214Asn
XM_011523055.2:c.642G>C XP_011521357.1:p.Lys214Asn
XM_011523056.1:c.615G>C XP_011521358.1:p.Lys205Asn
XM_011523056.2:c.615G>C XP_011521358.1:p.Lys205Asn
XM_011523057.1:c.744G>C XP_011521359.1:p.Lys248Asn
XM_011523057.2:c.744G>C XP_011521359.1:p.Lys248Asn
XM_017023182.2:c.744G>C XP_016878671.1:p.Lys248Asn
XM_017023183.1:c.744G>C XP_016878672.1:p.Lys248Asn
XM_017023184.1:c.744G>C XP_016878673.1:p.Lys248Asn
XM_017023185.1:c.744G>C XP_016878674.1:p.Lys248Asn
XM_017023186.1:c.744G>C XP_016878675.1:p.Lys248Asn
XM_017023187.1:c.744G>C XP_016878676.1:p.Lys248Asn
XM_024450244.1:c.642G>C XP_024306012.1:p.Lys214Asn