Canonical Allele Identifier: CA16035883

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842246C>T , CM000667.2:g.112842246C>T	GRCh38
NC_000005.9:g.112177943C>T , CM000667.1:g.112177943C>T	GRCh37
NC_000005.8:g.112205842C>T	NCBI36
NG_008481.4:g.154726C>T , LRG_130:g.154726C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.6652C>T MANE Select	NP_000029.2:p.Gln2218Ter
ENST00000257430.9:c.6652C>T MANE Select	ENSP00000257430.4:p.Gln2218Ter
NM_000038.5:c.6652C>T	NP_000029.2:p.Gln2218Ter
NM_001127510.2:c.6652C>T	NP_001120982.1:p.Gln2218Ter
NM_001127510.3:c.6652C>T	NP_001120982.1:p.Gln2218Ter
NM_001127511.2:c.6598C>T	NP_001120983.2:p.Gln2200Ter
NM_001127511.3:c.6598C>T	NP_001120983.2:p.Gln2200Ter
NM_001354895.1:c.6652C>T	NP_001341824.1:p.Gln2218Ter
NM_001354895.2:c.6652C>T	NP_001341824.1:p.Gln2218Ter
NM_001354896.1:c.6706C>T	NP_001341825.1:p.Gln2236Ter
NM_001354896.2:c.6706C>T	NP_001341825.1:p.Gln2236Ter
NM_001354897.1:c.6682C>T	NP_001341826.1:p.Gln2228Ter
NM_001354897.2:c.6682C>T	NP_001341826.1:p.Gln2228Ter
NM_001354898.1:c.6577C>T	NP_001341827.1:p.Gln2193Ter
NM_001354898.2:c.6577C>T	NP_001341827.1:p.Gln2193Ter
NM_001354899.1:c.6568C>T	NP_001341828.1:p.Gln2190Ter
NM_001354899.2:c.6568C>T	NP_001341828.1:p.Gln2190Ter
NM_001354900.1:c.6529C>T	NP_001341829.1:p.Gln2177Ter
NM_001354900.2:c.6529C>T	NP_001341829.1:p.Gln2177Ter
NM_001354901.1:c.6475C>T	NP_001341830.1:p.Gln2159Ter
NM_001354901.2:c.6475C>T	NP_001341830.1:p.Gln2159Ter
NM_001354902.1:c.6379C>T	NP_001341831.1:p.Gln2127Ter
NM_001354902.2:c.6379C>T	NP_001341831.1:p.Gln2127Ter
NM_001354903.1:c.6349C>T	NP_001341832.1:p.Gln2117Ter
NM_001354903.2:c.6349C>T	NP_001341832.1:p.Gln2117Ter
NM_001354904.1:c.6274C>T	NP_001341833.1:p.Gln2092Ter
NM_001354904.2:c.6274C>T	NP_001341833.1:p.Gln2092Ter
NM_001354905.1:c.6172C>T	NP_001341834.1:p.Gln2058Ter
NM_001354905.2:c.6172C>T	NP_001341834.1:p.Gln2058Ter
NM_001354906.1:c.5803C>T	NP_001341835.1:p.Gln1935Ter
NM_001354906.2:c.5803C>T	NP_001341835.1:p.Gln1935Ter
ENST00000257430.8:c.6652C>T	ENSP00000257430.4:p.Gln2218Ter
ENST00000504915.3:c.6706C>T	ENSP00000473355.2:p.Gln2236Ter
ENST00000505350.2:c.*6658C>T	ENSP00000481752.1:n.*6658C>T
ENST00000507379.6:c.6598C>T	ENSP00000423224.2:p.Gln2200Ter
ENST00000508376.6:c.6652C>T	ENSP00000427089.2:p.Gln2218Ter
ENST00000508624.5:c.*5974C>T	ENSP00000424265.1:n.*5974C>T
ENST00000509732.6:c.6652C>T	ENSP00000426541.2:p.Gln2218Ter
ENST00000512211.7:c.6652C>T	ENSP00000423828.3:p.Gln2218Ter
ENST00000520401.1:c.230+13274C>T