Canonical Allele Identifier: CA8242700
Community Standard Title: NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)
Gene: ANKRD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89284779G>A , CM000678.2:g.89284779G>A GRCh38
NC_000016.9:g.89351187G>A , CM000678.1:g.89351187G>A GRCh37
NC_000016.8:g.87878688G>A NCBI36
NG_032003.1:g.210783C>T
NG_032003.2:g.210783C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013275.6:c.1763C>T MANE Select NP_037407.4:p.Ser588Leu
ENST00000301030.10:c.1763C>T MANE Select ENSP00000301030.4:p.Ser588Leu
NM_001256182.1:c.1763C>T NP_001243111.1:p.Ser588Leu
NM_001256182.2:c.1763C>T NP_001243111.1:p.Ser588Leu
NM_001256183.1:c.1763C>T NP_001243112.1:p.Ser588Leu
NM_001256183.2:c.1763C>T NP_001243112.1:p.Ser588Leu
NM_013275.5:c.1763C>T NP_037407.4:p.Ser588Leu
ENST00000301030.8:c.1763C>T ENSP00000301030.4:p.Ser588Leu
ENST00000330736.10:c.*1566C>T ENSP00000330815.5:n.*1566C>T
ENST00000330736.9:c.*1566C>T ENSP00000330815.5:n.*1566C>T
ENST00000378330.6:c.1763C>T ENSP00000367581.2:p.Ser588Leu
ENST00000378330.7:c.1763C>T ENSP00000367581.2:p.Ser588Leu
ENST00000562194.1:c.151+3749C>T
ENST00000642443.1:c.1388C>T ENSP00000493644.1:p.Ser463Leu
ENST00000642600.1:c.1763C>T ENSP00000495226.1:p.Ser588Leu
ENST00000644285.1:c.744+3749C>T ENSP00000496476.1:n.744+3749C>T
ENST00000645212.1:n.3535C>T
ENST00000646345.1:n.1755C>T
XM_006721181.1:c.1661C>T XP_006721244.1:p.Ser554Leu
XM_006721184.2:c.1466C>T XP_006721247.1:p.Ser489Leu
XM_011523051.1:c.1763C>T XP_011521353.1:p.Ser588Leu
XM_011523051.3:c.1763C>T XP_011521353.1:p.Ser588Leu
XM_011523052.1:c.1763C>T XP_011521354.1:p.Ser588Leu
XM_011523053.1:c.1763C>T XP_011521355.1:p.Ser588Leu
XM_011523053.2:c.1763C>T XP_011521355.1:p.Ser588Leu
XM_011523054.1:c.1661C>T XP_011521356.1:p.Ser554Leu
XM_011523054.2:c.1661C>T XP_011521356.1:p.Ser554Leu
XM_011523055.1:c.1661C>T XP_011521357.1:p.Ser554Leu
XM_011523055.2:c.1661C>T XP_011521357.1:p.Ser554Leu
XM_011523056.1:c.1634C>T XP_011521358.1:p.Ser545Leu
XM_011523056.2:c.1634C>T XP_011521358.1:p.Ser545Leu
XM_011523057.1:c.1763C>T XP_011521359.1:p.Ser588Leu
XM_011523057.2:c.1763C>T XP_011521359.1:p.Ser588Leu
XM_017023182.2:c.1763C>T XP_016878671.1:p.Ser588Leu
XM_017023183.1:c.1763C>T XP_016878672.1:p.Ser588Leu
XM_017023184.1:c.1763C>T XP_016878673.1:p.Ser588Leu
XM_017023185.1:c.1763C>T XP_016878674.1:p.Ser588Leu
XM_017023186.1:c.1763C>T XP_016878675.1:p.Ser588Leu
XM_017023187.1:c.1763C>T XP_016878676.1:p.Ser588Leu
XM_024450244.1:c.1661C>T XP_024306012.1:p.Ser554Leu