Canonical Allele Identifier: CA16024844
Community Standard Title: NM_000038.6(APC):c.1619T>G (p.Leu540Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112827999T>G , CM000667.2:g.112827999T>G GRCh38
NC_000005.9:g.112163696T>G , CM000667.1:g.112163696T>G GRCh37
NC_000005.8:g.112191595T>G NCBI36
NG_008481.4:g.140479T>G , LRG_130:g.140479T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.1619T>G MANE Select NP_000029.2:p.Leu540Ter
ENST00000257430.9:c.1619T>G MANE Select ENSP00000257430.4:p.Leu540Ter
NM_000038.5:c.1619T>G NP_000029.2:p.Leu540Ter
NM_001127510.2:c.1619T>G NP_001120982.1:p.Leu540Ter
NM_001127510.3:c.1619T>G NP_001120982.1:p.Leu540Ter
NM_001127511.2:c.1565T>G NP_001120983.2:p.Leu522Ter
NM_001127511.3:c.1565T>G NP_001120983.2:p.Leu522Ter
NM_001354895.1:c.1619T>G NP_001341824.1:p.Leu540Ter
NM_001354895.2:c.1619T>G NP_001341824.1:p.Leu540Ter
NM_001354896.1:c.1673T>G NP_001341825.1:p.Leu558Ter
NM_001354896.2:c.1673T>G NP_001341825.1:p.Leu558Ter
NM_001354897.1:c.1649T>G NP_001341826.1:p.Leu550Ter
NM_001354897.2:c.1649T>G NP_001341826.1:p.Leu550Ter
NM_001354898.1:c.1544T>G NP_001341827.1:p.Leu515Ter
NM_001354898.2:c.1544T>G NP_001341827.1:p.Leu515Ter
NM_001354899.1:c.1535T>G NP_001341828.1:p.Leu512Ter
NM_001354899.2:c.1535T>G NP_001341828.1:p.Leu512Ter
NM_001354900.1:c.1496T>G NP_001341829.1:p.Leu499Ter
NM_001354900.2:c.1496T>G NP_001341829.1:p.Leu499Ter
NM_001354901.1:c.1442T>G NP_001341830.1:p.Leu481Ter
NM_001354901.2:c.1442T>G NP_001341830.1:p.Leu481Ter
NM_001354902.1:c.1346T>G NP_001341831.1:p.Leu449Ter
NM_001354902.2:c.1346T>G NP_001341831.1:p.Leu449Ter
NM_001354903.1:c.1316T>G NP_001341832.1:p.Leu439Ter
NM_001354903.2:c.1316T>G NP_001341832.1:p.Leu439Ter
NM_001354904.1:c.1241T>G NP_001341833.1:p.Leu414Ter
NM_001354904.2:c.1241T>G NP_001341833.1:p.Leu414Ter
NM_001354905.1:c.1139T>G NP_001341834.1:p.Leu380Ter
NM_001354905.2:c.1139T>G NP_001341834.1:p.Leu380Ter
NM_001354906.1:c.770T>G NP_001341835.1:p.Leu257Ter
NM_001354906.2:c.770T>G NP_001341835.1:p.Leu257Ter
ENST00000257430.8:c.1619T>G ENSP00000257430.4:p.Leu540Ter
ENST00000502371.2:c.96+6008T>G
ENST00000502371.3:c.1408+6008T>G ENSP00000484935.2:n.1408+6008T>G
ENST00000504915.2:c.308T>G ENSP00000473355.1:p.Leu103Ter
ENST00000504915.3:c.1673T>G ENSP00000473355.2:p.Leu558Ter
ENST00000505084.1:n.106T>G
ENST00000505084.2:n.1675T>G
ENST00000505350.2:c.*1625T>G ENSP00000481752.1:n.*1625T>G
ENST00000507379.5:c.1565T>G ENSP00000423224.1:p.Leu522Ter
ENST00000507379.6:c.1565T>G ENSP00000423224.2:p.Leu522Ter
ENST00000508376.6:c.1619T>G ENSP00000427089.2:p.Leu540Ter
ENST00000508624.5:c.*941T>G ENSP00000424265.1:n.*941T>G
ENST00000509732.6:c.1619T>G ENSP00000426541.2:p.Leu540Ter
ENST00000512211.6:c.1619T>G ENSP00000423828.2:p.Leu540Ter
ENST00000512211.7:c.1619T>G ENSP00000423828.3:p.Leu540Ter
ENST00000520401.1:c.106T>G