Canonical Allele Identifier: CA16034574
Community Standard Title: NM_000038.6(APC):c.6052C>A (p.Pro2018Thr)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841646C>A , CM000667.2:g.112841646C>A GRCh38
NC_000005.9:g.112177343C>A , CM000667.1:g.112177343C>A GRCh37
NC_000005.8:g.112205242C>A NCBI36
NG_008481.4:g.154126C>A , LRG_130:g.154126C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6052C>A MANE Select NP_000029.2:p.Pro2018Thr
ENST00000257430.9:c.6052C>A MANE Select ENSP00000257430.4:p.Pro2018Thr
NM_000038.5:c.6052C>A NP_000029.2:p.Pro2018Thr
NM_001127510.2:c.6052C>A NP_001120982.1:p.Pro2018Thr
NM_001127510.3:c.6052C>A NP_001120982.1:p.Pro2018Thr
NM_001127511.2:c.5998C>A NP_001120983.2:p.Pro2000Thr
NM_001127511.3:c.5998C>A NP_001120983.2:p.Pro2000Thr
NM_001354895.1:c.6052C>A NP_001341824.1:p.Pro2018Thr
NM_001354895.2:c.6052C>A NP_001341824.1:p.Pro2018Thr
NM_001354896.1:c.6106C>A NP_001341825.1:p.Pro2036Thr
NM_001354896.2:c.6106C>A NP_001341825.1:p.Pro2036Thr
NM_001354897.1:c.6082C>A NP_001341826.1:p.Pro2028Thr
NM_001354897.2:c.6082C>A NP_001341826.1:p.Pro2028Thr
NM_001354898.1:c.5977C>A NP_001341827.1:p.Pro1993Thr
NM_001354898.2:c.5977C>A NP_001341827.1:p.Pro1993Thr
NM_001354899.1:c.5968C>A NP_001341828.1:p.Pro1990Thr
NM_001354899.2:c.5968C>A NP_001341828.1:p.Pro1990Thr
NM_001354900.1:c.5929C>A NP_001341829.1:p.Pro1977Thr
NM_001354900.2:c.5929C>A NP_001341829.1:p.Pro1977Thr
NM_001354901.1:c.5875C>A NP_001341830.1:p.Pro1959Thr
NM_001354901.2:c.5875C>A NP_001341830.1:p.Pro1959Thr
NM_001354902.1:c.5779C>A NP_001341831.1:p.Pro1927Thr
NM_001354902.2:c.5779C>A NP_001341831.1:p.Pro1927Thr
NM_001354903.1:c.5749C>A NP_001341832.1:p.Pro1917Thr
NM_001354903.2:c.5749C>A NP_001341832.1:p.Pro1917Thr
NM_001354904.1:c.5674C>A NP_001341833.1:p.Pro1892Thr
NM_001354904.2:c.5674C>A NP_001341833.1:p.Pro1892Thr
NM_001354905.1:c.5572C>A NP_001341834.1:p.Pro1858Thr
NM_001354905.2:c.5572C>A NP_001341834.1:p.Pro1858Thr
NM_001354906.1:c.5203C>A NP_001341835.1:p.Pro1735Thr
NM_001354906.2:c.5203C>A NP_001341835.1:p.Pro1735Thr
ENST00000257430.8:c.6052C>A ENSP00000257430.4:p.Pro2018Thr
ENST00000504915.3:c.6106C>A ENSP00000473355.2:p.Pro2036Thr
ENST00000505350.2:c.*6058C>A ENSP00000481752.1:n.*6058C>A
ENST00000507379.6:c.5998C>A ENSP00000423224.2:p.Pro2000Thr
ENST00000508376.6:c.6052C>A ENSP00000427089.2:p.Pro2018Thr
ENST00000508624.5:c.*5374C>A ENSP00000424265.1:n.*5374C>A
ENST00000509732.6:c.6052C>A ENSP00000426541.2:p.Pro2018Thr
ENST00000512211.7:c.6052C>A ENSP00000423828.3:p.Pro2018Thr
ENST00000520401.1:c.230+12674C>A