Canonical Allele Identifier: CA16034577
Community Standard Title: NM_000038.6(APC):c.6053C>A (p.Pro2018Gln)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841647C>A , CM000667.2:g.112841647C>A GRCh38
NC_000005.9:g.112177344C>A , CM000667.1:g.112177344C>A GRCh37
NC_000005.8:g.112205243C>A NCBI36
NG_008481.4:g.154127C>A , LRG_130:g.154127C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6053C>A MANE Select NP_000029.2:p.Pro2018Gln
ENST00000257430.9:c.6053C>A MANE Select ENSP00000257430.4:p.Pro2018Gln
NM_000038.5:c.6053C>A NP_000029.2:p.Pro2018Gln
NM_001127510.2:c.6053C>A NP_001120982.1:p.Pro2018Gln
NM_001127510.3:c.6053C>A NP_001120982.1:p.Pro2018Gln
NM_001127511.2:c.5999C>A NP_001120983.2:p.Pro2000Gln
NM_001127511.3:c.5999C>A NP_001120983.2:p.Pro2000Gln
NM_001354895.1:c.6053C>A NP_001341824.1:p.Pro2018Gln
NM_001354895.2:c.6053C>A NP_001341824.1:p.Pro2018Gln
NM_001354896.1:c.6107C>A NP_001341825.1:p.Pro2036Gln
NM_001354896.2:c.6107C>A NP_001341825.1:p.Pro2036Gln
NM_001354897.1:c.6083C>A NP_001341826.1:p.Pro2028Gln
NM_001354897.2:c.6083C>A NP_001341826.1:p.Pro2028Gln
NM_001354898.1:c.5978C>A NP_001341827.1:p.Pro1993Gln
NM_001354898.2:c.5978C>A NP_001341827.1:p.Pro1993Gln
NM_001354899.1:c.5969C>A NP_001341828.1:p.Pro1990Gln
NM_001354899.2:c.5969C>A NP_001341828.1:p.Pro1990Gln
NM_001354900.1:c.5930C>A NP_001341829.1:p.Pro1977Gln
NM_001354900.2:c.5930C>A NP_001341829.1:p.Pro1977Gln
NM_001354901.1:c.5876C>A NP_001341830.1:p.Pro1959Gln
NM_001354901.2:c.5876C>A NP_001341830.1:p.Pro1959Gln
NM_001354902.1:c.5780C>A NP_001341831.1:p.Pro1927Gln
NM_001354902.2:c.5780C>A NP_001341831.1:p.Pro1927Gln
NM_001354903.1:c.5750C>A NP_001341832.1:p.Pro1917Gln
NM_001354903.2:c.5750C>A NP_001341832.1:p.Pro1917Gln
NM_001354904.1:c.5675C>A NP_001341833.1:p.Pro1892Gln
NM_001354904.2:c.5675C>A NP_001341833.1:p.Pro1892Gln
NM_001354905.1:c.5573C>A NP_001341834.1:p.Pro1858Gln
NM_001354905.2:c.5573C>A NP_001341834.1:p.Pro1858Gln
NM_001354906.1:c.5204C>A NP_001341835.1:p.Pro1735Gln
NM_001354906.2:c.5204C>A NP_001341835.1:p.Pro1735Gln
ENST00000257430.8:c.6053C>A ENSP00000257430.4:p.Pro2018Gln
ENST00000504915.3:c.6107C>A ENSP00000473355.2:p.Pro2036Gln
ENST00000505350.2:c.*6059C>A ENSP00000481752.1:n.*6059C>A
ENST00000507379.6:c.5999C>A ENSP00000423224.2:p.Pro2000Gln
ENST00000508376.6:c.6053C>A ENSP00000427089.2:p.Pro2018Gln
ENST00000508624.5:c.*5375C>A ENSP00000424265.1:n.*5375C>A
ENST00000509732.6:c.6053C>A ENSP00000426541.2:p.Pro2018Gln
ENST00000512211.7:c.6053C>A ENSP00000423828.3:p.Pro2018Gln
ENST00000520401.1:c.230+12675C>A