Canonical Allele Identifier: CA16034945

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841809T>G , CM000667.2:g.112841809T>G	GRCh38
NC_000005.9:g.112177506T>G , CM000667.1:g.112177506T>G	GRCh37
NC_000005.8:g.112205405T>G	NCBI36
NG_008481.4:g.154289T>G , LRG_130:g.154289T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.6215T>G MANE Select	NP_000029.2:p.Leu2072Ter
ENST00000257430.9:c.6215T>G MANE Select	ENSP00000257430.4:p.Leu2072Ter
NM_000038.5:c.6215T>G	NP_000029.2:p.Leu2072Ter
NM_001127510.2:c.6215T>G	NP_001120982.1:p.Leu2072Ter
NM_001127510.3:c.6215T>G	NP_001120982.1:p.Leu2072Ter
NM_001127511.2:c.6161T>G	NP_001120983.2:p.Leu2054Ter
NM_001127511.3:c.6161T>G	NP_001120983.2:p.Leu2054Ter
NM_001354895.1:c.6215T>G	NP_001341824.1:p.Leu2072Ter
NM_001354895.2:c.6215T>G	NP_001341824.1:p.Leu2072Ter
NM_001354896.1:c.6269T>G	NP_001341825.1:p.Leu2090Ter
NM_001354896.2:c.6269T>G	NP_001341825.1:p.Leu2090Ter
NM_001354897.1:c.6245T>G	NP_001341826.1:p.Leu2082Ter
NM_001354897.2:c.6245T>G	NP_001341826.1:p.Leu2082Ter
NM_001354898.1:c.6140T>G	NP_001341827.1:p.Leu2047Ter
NM_001354898.2:c.6140T>G	NP_001341827.1:p.Leu2047Ter
NM_001354899.1:c.6131T>G	NP_001341828.1:p.Leu2044Ter
NM_001354899.2:c.6131T>G	NP_001341828.1:p.Leu2044Ter
NM_001354900.1:c.6092T>G	NP_001341829.1:p.Leu2031Ter
NM_001354900.2:c.6092T>G	NP_001341829.1:p.Leu2031Ter
NM_001354901.1:c.6038T>G	NP_001341830.1:p.Leu2013Ter
NM_001354901.2:c.6038T>G	NP_001341830.1:p.Leu2013Ter
NM_001354902.1:c.5942T>G	NP_001341831.1:p.Leu1981Ter
NM_001354902.2:c.5942T>G	NP_001341831.1:p.Leu1981Ter
NM_001354903.1:c.5912T>G	NP_001341832.1:p.Leu1971Ter
NM_001354903.2:c.5912T>G	NP_001341832.1:p.Leu1971Ter
NM_001354904.1:c.5837T>G	NP_001341833.1:p.Leu1946Ter
NM_001354904.2:c.5837T>G	NP_001341833.1:p.Leu1946Ter
NM_001354905.1:c.5735T>G	NP_001341834.1:p.Leu1912Ter
NM_001354905.2:c.5735T>G	NP_001341834.1:p.Leu1912Ter
NM_001354906.1:c.5366T>G	NP_001341835.1:p.Leu1789Ter
NM_001354906.2:c.5366T>G	NP_001341835.1:p.Leu1789Ter
ENST00000257430.8:c.6215T>G	ENSP00000257430.4:p.Leu2072Ter
ENST00000504915.3:c.6269T>G	ENSP00000473355.2:p.Leu2090Ter
ENST00000505350.2:c.*6221T>G	ENSP00000481752.1:n.*6221T>G
ENST00000507379.6:c.6161T>G	ENSP00000423224.2:p.Leu2054Ter
ENST00000508376.6:c.6215T>G	ENSP00000427089.2:p.Leu2072Ter
ENST00000508624.5:c.*5537T>G	ENSP00000424265.1:n.*5537T>G
ENST00000509732.6:c.6215T>G	ENSP00000426541.2:p.Leu2072Ter
ENST00000512211.7:c.6215T>G	ENSP00000423828.3:p.Leu2072Ter
ENST00000520401.1:c.230+12837T>G