Canonical Allele Identifier: CA16026555

Gene: APC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837971C>T , CM000667.2:g.112837971C>T	GRCh38
NC_000005.9:g.112173668C>T , CM000667.1:g.112173668C>T	GRCh37
NC_000005.8:g.112201567C>T	NCBI36
NG_008481.4:g.150451C>T , LRG_130:g.150451C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.2377C>T MANE Select	NP_000029.2:p.Gln793Ter
ENST00000257430.9:c.2377C>T MANE Select	ENSP00000257430.4:p.Gln793Ter
NM_000038.5:c.2377C>T	NP_000029.2:p.Gln793Ter
NM_001127510.2:c.2377C>T	NP_001120982.1:p.Gln793Ter
NM_001127510.3:c.2377C>T	NP_001120982.1:p.Gln793Ter
NM_001127511.2:c.2323C>T	NP_001120983.2:p.Gln775Ter
NM_001127511.3:c.2323C>T	NP_001120983.2:p.Gln775Ter
NM_001354895.1:c.2377C>T	NP_001341824.1:p.Gln793Ter
NM_001354895.2:c.2377C>T	NP_001341824.1:p.Gln793Ter
NM_001354896.1:c.2431C>T	NP_001341825.1:p.Gln811Ter
NM_001354896.2:c.2431C>T	NP_001341825.1:p.Gln811Ter
NM_001354897.1:c.2407C>T	NP_001341826.1:p.Gln803Ter
NM_001354897.2:c.2407C>T	NP_001341826.1:p.Gln803Ter
NM_001354898.1:c.2302C>T	NP_001341827.1:p.Gln768Ter
NM_001354898.2:c.2302C>T	NP_001341827.1:p.Gln768Ter
NM_001354899.1:c.2293C>T	NP_001341828.1:p.Gln765Ter
NM_001354899.2:c.2293C>T	NP_001341828.1:p.Gln765Ter
NM_001354900.1:c.2254C>T	NP_001341829.1:p.Gln752Ter
NM_001354900.2:c.2254C>T	NP_001341829.1:p.Gln752Ter
NM_001354901.1:c.2200C>T	NP_001341830.1:p.Gln734Ter
NM_001354901.2:c.2200C>T	NP_001341830.1:p.Gln734Ter
NM_001354902.1:c.2104C>T	NP_001341831.1:p.Gln702Ter
NM_001354902.2:c.2104C>T	NP_001341831.1:p.Gln702Ter
NM_001354903.1:c.2074C>T	NP_001341832.1:p.Gln692Ter
NM_001354903.2:c.2074C>T	NP_001341832.1:p.Gln692Ter
NM_001354904.1:c.1999C>T	NP_001341833.1:p.Gln667Ter
NM_001354904.2:c.1999C>T	NP_001341833.1:p.Gln667Ter
NM_001354905.1:c.1897C>T	NP_001341834.1:p.Gln633Ter
NM_001354905.2:c.1897C>T	NP_001341834.1:p.Gln633Ter
NM_001354906.1:c.1528C>T	NP_001341835.1:p.Gln510Ter
NM_001354906.2:c.1528C>T	NP_001341835.1:p.Gln510Ter
ENST00000257430.8:c.2377C>T	ENSP00000257430.4:p.Gln793Ter
ENST00000502371.2:c.730C>T
ENST00000502371.3:c.2042C>T	ENSP00000484935.2:n.2042C>T
ENST00000504915.3:c.2431C>T	ENSP00000473355.2:p.Gln811Ter
ENST00000505350.2:c.*2383C>T	ENSP00000481752.1:n.*2383C>T
ENST00000507379.5:c.2323C>T	ENSP00000423224.1:p.Gln775Ter
ENST00000507379.6:c.2323C>T	ENSP00000423224.2:p.Gln775Ter
ENST00000508376.6:c.2377C>T	ENSP00000427089.2:p.Gln793Ter
ENST00000508624.5:c.*1699C>T	ENSP00000424265.1:n.*1699C>T
ENST00000509732.6:c.2377C>T	ENSP00000426541.2:p.Gln793Ter
ENST00000512211.6:c.2377C>T	ENSP00000423828.2:p.Gln793Ter
ENST00000512211.7:c.2377C>T	ENSP00000423828.3:p.Gln793Ter
ENST00000520401.1:c.230+8999C>T