Canonical Allele Identifier: CA445758853
Community Standard Title: NM_000038.6(APC):c.1815T>C (p.Asp605=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112835022T>C , CM000667.2:g.112835022T>C GRCh38
NC_000005.9:g.112170719T>C , CM000667.1:g.112170719T>C GRCh37
NC_000005.8:g.112198618T>C NCBI36
NG_008481.4:g.147502T>C , LRG_130:g.147502T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.1815T>C MANE Select NP_000029.2:p.Asp605=
ENST00000257430.9:c.1815T>C MANE Select ENSP00000257430.4:p.Asp605=
NM_000038.5:c.1815T>C NP_000029.2:p.Asp605=
NM_001127510.2:c.1815T>C NP_001120982.1:p.Asp605=
NM_001127510.3:c.1815T>C NP_001120982.1:p.Asp605=
NM_001127511.2:c.1761T>C NP_001120983.2:p.Asp587=
NM_001127511.3:c.1761T>C NP_001120983.2:p.Asp587=
NM_001354895.1:c.1815T>C NP_001341824.1:p.Asp605=
NM_001354895.2:c.1815T>C NP_001341824.1:p.Asp605=
NM_001354896.1:c.1869T>C NP_001341825.1:p.Asp623=
NM_001354896.2:c.1869T>C NP_001341825.1:p.Asp623=
NM_001354897.1:c.1845T>C NP_001341826.1:p.Asp615=
NM_001354897.2:c.1845T>C NP_001341826.1:p.Asp615=
NM_001354898.1:c.1740T>C NP_001341827.1:p.Asp580=
NM_001354898.2:c.1740T>C NP_001341827.1:p.Asp580=
NM_001354899.1:c.1731T>C NP_001341828.1:p.Asp577=
NM_001354899.2:c.1731T>C NP_001341828.1:p.Asp577=
NM_001354900.1:c.1692T>C NP_001341829.1:p.Asp564=
NM_001354900.2:c.1692T>C NP_001341829.1:p.Asp564=
NM_001354901.1:c.1638T>C NP_001341830.1:p.Asp546=
NM_001354901.2:c.1638T>C NP_001341830.1:p.Asp546=
NM_001354902.1:c.1542T>C NP_001341831.1:p.Asp514=
NM_001354902.2:c.1542T>C NP_001341831.1:p.Asp514=
NM_001354903.1:c.1512T>C NP_001341832.1:p.Asp504=
NM_001354903.2:c.1512T>C NP_001341832.1:p.Asp504=
NM_001354904.1:c.1437T>C NP_001341833.1:p.Asp479=
NM_001354904.2:c.1437T>C NP_001341833.1:p.Asp479=
NM_001354905.1:c.1335T>C NP_001341834.1:p.Asp445=
NM_001354905.2:c.1335T>C NP_001341834.1:p.Asp445=
NM_001354906.1:c.966T>C NP_001341835.1:p.Asp322=
NM_001354906.2:c.966T>C NP_001341835.1:p.Asp322=
ENST00000257430.8:c.1815T>C ENSP00000257430.4:p.Asp605=
ENST00000502371.2:c.168T>C
ENST00000502371.3:c.1480T>C ENSP00000484935.2:n.1480T>C
ENST00000504915.2:c.504T>C ENSP00000473355.1:p.Asp168=
ENST00000504915.3:c.1869T>C ENSP00000473355.2:p.Asp623=
ENST00000505350.2:c.*1821T>C ENSP00000481752.1:n.*1821T>C
ENST00000507379.5:c.1761T>C ENSP00000423224.1:p.Asp587=
ENST00000507379.6:c.1761T>C ENSP00000423224.2:p.Asp587=
ENST00000508376.6:c.1815T>C ENSP00000427089.2:p.Asp605=
ENST00000508624.5:c.*1137T>C ENSP00000424265.1:n.*1137T>C
ENST00000509732.6:c.1815T>C ENSP00000426541.2:p.Asp605=
ENST00000512211.6:c.1815T>C ENSP00000423828.2:p.Asp605=
ENST00000512211.7:c.1815T>C ENSP00000423828.3:p.Asp605=
ENST00000520401.1:c.230+6050T>C