Canonical Allele Identifier: CA16025803

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837645T>A , CM000667.2:g.112837645T>A	GRCh38
NC_000005.9:g.112173342T>A , CM000667.1:g.112173342T>A	GRCh37
NC_000005.8:g.112201241T>A	NCBI36
NG_008481.4:g.150125T>A , LRG_130:g.150125T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.2051T>A MANE Select	NP_000029.2:p.Leu684Ter
ENST00000257430.9:c.2051T>A MANE Select	ENSP00000257430.4:p.Leu684Ter
NM_000038.5:c.2051T>A	NP_000029.2:p.Leu684Ter
NM_001127510.2:c.2051T>A	NP_001120982.1:p.Leu684Ter
NM_001127510.3:c.2051T>A	NP_001120982.1:p.Leu684Ter
NM_001127511.2:c.1997T>A	NP_001120983.2:p.Leu666Ter
NM_001127511.3:c.1997T>A	NP_001120983.2:p.Leu666Ter
NM_001354895.1:c.2051T>A	NP_001341824.1:p.Leu684Ter
NM_001354895.2:c.2051T>A	NP_001341824.1:p.Leu684Ter
NM_001354896.1:c.2105T>A	NP_001341825.1:p.Leu702Ter
NM_001354896.2:c.2105T>A	NP_001341825.1:p.Leu702Ter
NM_001354897.1:c.2081T>A	NP_001341826.1:p.Leu694Ter
NM_001354897.2:c.2081T>A	NP_001341826.1:p.Leu694Ter
NM_001354898.1:c.1976T>A	NP_001341827.1:p.Leu659Ter
NM_001354898.2:c.1976T>A	NP_001341827.1:p.Leu659Ter
NM_001354899.1:c.1967T>A	NP_001341828.1:p.Leu656Ter
NM_001354899.2:c.1967T>A	NP_001341828.1:p.Leu656Ter
NM_001354900.1:c.1928T>A	NP_001341829.1:p.Leu643Ter
NM_001354900.2:c.1928T>A	NP_001341829.1:p.Leu643Ter
NM_001354901.1:c.1874T>A	NP_001341830.1:p.Leu625Ter
NM_001354901.2:c.1874T>A	NP_001341830.1:p.Leu625Ter
NM_001354902.1:c.1778T>A	NP_001341831.1:p.Leu593Ter
NM_001354902.2:c.1778T>A	NP_001341831.1:p.Leu593Ter
NM_001354903.1:c.1748T>A	NP_001341832.1:p.Leu583Ter
NM_001354903.2:c.1748T>A	NP_001341832.1:p.Leu583Ter
NM_001354904.1:c.1673T>A	NP_001341833.1:p.Leu558Ter
NM_001354904.2:c.1673T>A	NP_001341833.1:p.Leu558Ter
NM_001354905.1:c.1571T>A	NP_001341834.1:p.Leu524Ter
NM_001354905.2:c.1571T>A	NP_001341834.1:p.Leu524Ter
NM_001354906.1:c.1202T>A	NP_001341835.1:p.Leu401Ter
NM_001354906.2:c.1202T>A	NP_001341835.1:p.Leu401Ter
ENST00000257430.8:c.2051T>A	ENSP00000257430.4:p.Leu684Ter
ENST00000502371.2:c.404T>A
ENST00000502371.3:c.1716T>A	ENSP00000484935.2:n.1716T>A
ENST00000504915.2:c.740T>A	ENSP00000473355.1:p.Leu247Ter
ENST00000504915.3:c.2105T>A	ENSP00000473355.2:p.Leu702Ter
ENST00000505350.2:c.*2057T>A	ENSP00000481752.1:n.*2057T>A
ENST00000507379.5:c.1997T>A	ENSP00000423224.1:p.Leu666Ter
ENST00000507379.6:c.1997T>A	ENSP00000423224.2:p.Leu666Ter
ENST00000508376.6:c.2051T>A	ENSP00000427089.2:p.Leu684Ter
ENST00000508624.5:c.*1373T>A	ENSP00000424265.1:n.*1373T>A
ENST00000509732.6:c.2051T>A	ENSP00000426541.2:p.Leu684Ter
ENST00000512211.6:c.2051T>A	ENSP00000423828.2:p.Leu684Ter
ENST00000512211.7:c.2051T>A	ENSP00000423828.3:p.Leu684Ter
ENST00000520401.1:c.230+8673T>A