Canonical Allele Identifier: CA16036824

Gene: APC

Linked Data

• COSMIC: COSM1245174
• MyVariant Identifiers: chr5:g.112178406A>C (hg19) ; chr5:g.112842709A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842709A>C , CM000667.2:g.112842709A>C	GRCh38
NC_000005.9:g.112178406A>C , CM000667.1:g.112178406A>C	GRCh37
NC_000005.8:g.112206305A>C	NCBI36
NG_008481.4:g.155189A>C , LRG_130:g.155189A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7169A>C	ENSP00000473355.2:p.Gln2390Pro
ENST00000505350.2:c.*7121A>C	ENSP00000481752.1:n.*7121A>C
ENST00000507379.6:c.7061A>C	ENSP00000423224.2:p.Gln2354Pro
ENST00000509732.6:c.7115A>C	ENSP00000426541.2:p.Gln2372Pro
ENST00000512211.7:c.7115A>C	ENSP00000423828.3:p.Gln2372Pro
ENST00000257430.9:c.7115A>C MANE Select	ENSP00000257430.4:p.Gln2372Pro
ENST00000257430.8:c.7115A>C	ENSP00000257430.4:p.Gln2372Pro
ENST00000508376.6:c.7115A>C	ENSP00000427089.2:p.Gln2372Pro
ENST00000508624.5:c.*6437A>C	ENSP00000424265.1:n.*6437A>C
ENST00000520401.1:c.230+13737A>C
NM_000038.5:c.7115A>C	NP_000029.2:p.Gln2372Pro
NM_001127510.2:c.7115A>C	NP_001120982.1:p.Gln2372Pro
NM_001127511.2:c.7061A>C	NP_001120983.2:p.Gln2354Pro
NM_001354895.1:c.7115A>C	NP_001341824.1:p.Gln2372Pro
NM_001354896.1:c.7169A>C	NP_001341825.1:p.Gln2390Pro
NM_001354897.1:c.7145A>C	NP_001341826.1:p.Gln2382Pro
NM_001354898.1:c.7040A>C	NP_001341827.1:p.Gln2347Pro
NM_001354899.1:c.7031A>C	NP_001341828.1:p.Gln2344Pro
NM_001354900.1:c.6992A>C	NP_001341829.1:p.Gln2331Pro
NM_001354901.1:c.6938A>C	NP_001341830.1:p.Gln2313Pro
NM_001354902.1:c.6842A>C	NP_001341831.1:p.Gln2281Pro
NM_001354903.1:c.6812A>C	NP_001341832.1:p.Gln2271Pro
NM_001354904.1:c.6737A>C	NP_001341833.1:p.Gln2246Pro
NM_001354905.1:c.6635A>C	NP_001341834.1:p.Gln2212Pro
NM_001354906.1:c.6266A>C	NP_001341835.1:p.Gln2089Pro
NM_000038.6:c.7115A>C MANE Select	NP_000029.2:p.Gln2372Pro
NM_001127510.3:c.7115A>C	NP_001120982.1:p.Gln2372Pro
NM_001127511.3:c.7061A>C	NP_001120983.2:p.Gln2354Pro
NM_001354895.2:c.7115A>C	NP_001341824.1:p.Gln2372Pro
NM_001354896.2:c.7169A>C	NP_001341825.1:p.Gln2390Pro
NM_001354897.2:c.7145A>C	NP_001341826.1:p.Gln2382Pro
NM_001354898.2:c.7040A>C	NP_001341827.1:p.Gln2347Pro
NM_001354899.2:c.7031A>C	NP_001341828.1:p.Gln2344Pro
NM_001354900.2:c.6992A>C	NP_001341829.1:p.Gln2331Pro
NM_001354901.2:c.6938A>C	NP_001341830.1:p.Gln2313Pro
NM_001354902.2:c.6842A>C	NP_001341831.1:p.Gln2281Pro
NM_001354903.2:c.6812A>C	NP_001341832.1:p.Gln2271Pro
NM_001354904.2:c.6737A>C	NP_001341833.1:p.Gln2246Pro
NM_001354905.2:c.6635A>C	NP_001341834.1:p.Gln2212Pro
NM_001354906.2:c.6266A>C	NP_001341835.1:p.Gln2089Pro