Canonical Allele Identifier: CA445755969
Community Standard Title: NM_000038.6(APC):c.1479C>T (p.Tyr493=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827178C>T , CM000667.2:g.112827178C>T GRCh38
NC_000005.9:g.112162875C>T , CM000667.1:g.112162875C>T GRCh37
NC_000005.8:g.112190774C>T NCBI36
NG_008481.4:g.139658C>T , LRG_130:g.139658C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.1479C>T MANE Select NP_000029.2:p.Tyr493=
ENST00000257430.9:c.1479C>T MANE Select ENSP00000257430.4:p.Tyr493=
NM_000038.5:c.1479C>T NP_000029.2:p.Tyr493=
NM_001127510.2:c.1479C>T NP_001120982.1:p.Tyr493=
NM_001127510.3:c.1479C>T NP_001120982.1:p.Tyr493=
NM_001127511.2:c.1425C>T NP_001120983.2:p.Tyr475=
NM_001127511.3:c.1425C>T NP_001120983.2:p.Tyr475=
NM_001354895.1:c.1479C>T NP_001341824.1:p.Tyr493=
NM_001354895.2:c.1479C>T NP_001341824.1:p.Tyr493=
NM_001354896.1:c.1533C>T NP_001341825.1:p.Tyr511=
NM_001354896.2:c.1533C>T NP_001341825.1:p.Tyr511=
NM_001354897.1:c.1509C>T NP_001341826.1:p.Tyr503=
NM_001354897.2:c.1509C>T NP_001341826.1:p.Tyr503=
NM_001354898.1:c.1404C>T NP_001341827.1:p.Tyr468=
NM_001354898.2:c.1404C>T NP_001341827.1:p.Tyr468=
NM_001354899.1:c.1395C>T NP_001341828.1:p.Tyr465=
NM_001354899.2:c.1395C>T NP_001341828.1:p.Tyr465=
NM_001354900.1:c.1356C>T NP_001341829.1:p.Tyr452=
NM_001354900.2:c.1356C>T NP_001341829.1:p.Tyr452=
NM_001354901.1:c.1302C>T NP_001341830.1:p.Tyr434=
NM_001354901.2:c.1302C>T NP_001341830.1:p.Tyr434=
NM_001354902.1:c.1206C>T NP_001341831.1:p.Tyr402=
NM_001354902.2:c.1206C>T NP_001341831.1:p.Tyr402=
NM_001354903.1:c.1176C>T NP_001341832.1:p.Tyr392=
NM_001354903.2:c.1176C>T NP_001341832.1:p.Tyr392=
NM_001354904.1:c.1101C>T NP_001341833.1:p.Tyr367=
NM_001354904.2:c.1101C>T NP_001341833.1:p.Tyr367=
NM_001354905.1:c.999C>T NP_001341834.1:p.Tyr333=
NM_001354905.2:c.999C>T NP_001341834.1:p.Tyr333=
NM_001354906.1:c.630C>T NP_001341835.1:p.Tyr210=
NM_001354906.2:c.630C>T NP_001341835.1:p.Tyr210=
ENST00000257430.8:c.1479C>T ENSP00000257430.4:p.Tyr493=
ENST00000502371.2:c.96+5187C>T
ENST00000502371.3:c.1408+5187C>T ENSP00000484935.2:n.1408+5187C>T
ENST00000504915.2:c.168C>T ENSP00000473355.1:p.Tyr56=
ENST00000504915.3:c.1533C>T ENSP00000473355.2:p.Tyr511=
ENST00000505084.2:n.1535C>T
ENST00000505350.2:c.*1485C>T ENSP00000481752.1:n.*1485C>T
ENST00000507379.5:c.1425C>T ENSP00000423224.1:p.Tyr475=
ENST00000507379.6:c.1425C>T ENSP00000423224.2:p.Tyr475=
ENST00000508376.6:c.1479C>T ENSP00000427089.2:p.Tyr493=
ENST00000508624.5:c.*801C>T ENSP00000424265.1:n.*801C>T
ENST00000509732.6:c.1479C>T ENSP00000426541.2:p.Tyr493=
ENST00000512211.6:c.1479C>T ENSP00000423828.2:p.Tyr493=
ENST00000512211.7:c.1479C>T ENSP00000423828.3:p.Tyr493=