Canonical Allele Identifier: CA16025245

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112170699T>C (hg19) ; chr5:g.112835002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835002T>C , CM000667.2:g.112835002T>C	GRCh38
NC_000005.9:g.112170699T>C , CM000667.1:g.112170699T>C	GRCh37
NC_000005.8:g.112198598T>C	NCBI36
NG_008481.4:g.147482T>C , LRG_130:g.147482T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1460T>C	ENSP00000484935.2:p.Leu487Ser
ENST00000504915.3:c.1849T>C	ENSP00000473355.2:p.Cys617Arg
ENST00000505350.2:c.*1801T>C	ENSP00000481752.1:n.*1801T>C
ENST00000507379.6:c.1741T>C	ENSP00000423224.2:p.Cys581Arg
ENST00000509732.6:c.1795T>C	ENSP00000426541.2:p.Cys599Arg
ENST00000512211.7:c.1795T>C	ENSP00000423828.3:p.Cys599Arg
ENST00000257430.9:c.1795T>C MANE Select	ENSP00000257430.4:p.Cys599Arg
ENST00000257430.8:c.1795T>C	ENSP00000257430.4:p.Cys599Arg
ENST00000502371.2:c.148T>C
ENST00000504915.2:c.484T>C	ENSP00000473355.1:p.Cys162Arg
ENST00000507379.5:c.1741T>C	ENSP00000423224.1:p.Cys581Arg
ENST00000508376.6:c.1795T>C	ENSP00000427089.2:p.Cys599Arg
ENST00000508624.5:c.*1117T>C	ENSP00000424265.1:n.*1117T>C
ENST00000512211.6:c.1795T>C	ENSP00000423828.2:p.Cys599Arg
ENST00000520401.1:c.230+6030T>C
NM_000038.5:c.1795T>C	NP_000029.2:p.Cys599Arg
NM_001127510.2:c.1795T>C	NP_001120982.1:p.Cys599Arg
NM_001127511.2:c.1741T>C	NP_001120983.2:p.Cys581Arg
NM_001354895.1:c.1795T>C	NP_001341824.1:p.Cys599Arg
NM_001354896.1:c.1849T>C	NP_001341825.1:p.Cys617Arg
NM_001354897.1:c.1825T>C	NP_001341826.1:p.Cys609Arg
NM_001354898.1:c.1720T>C	NP_001341827.1:p.Cys574Arg
NM_001354899.1:c.1711T>C	NP_001341828.1:p.Cys571Arg
NM_001354900.1:c.1672T>C	NP_001341829.1:p.Cys558Arg
NM_001354901.1:c.1618T>C	NP_001341830.1:p.Cys540Arg
NM_001354902.1:c.1522T>C	NP_001341831.1:p.Cys508Arg
NM_001354903.1:c.1492T>C	NP_001341832.1:p.Cys498Arg
NM_001354904.1:c.1417T>C	NP_001341833.1:p.Cys473Arg
NM_001354905.1:c.1315T>C	NP_001341834.1:p.Cys439Arg
NM_001354906.1:c.946T>C	NP_001341835.1:p.Cys316Arg
NM_000038.6:c.1795T>C MANE Select	NP_000029.2:p.Cys599Arg
NM_001127510.3:c.1795T>C	NP_001120982.1:p.Cys599Arg
NM_001127511.3:c.1741T>C	NP_001120983.2:p.Cys581Arg
NM_001354895.2:c.1795T>C	NP_001341824.1:p.Cys599Arg
NM_001354896.2:c.1849T>C	NP_001341825.1:p.Cys617Arg
NM_001354897.2:c.1825T>C	NP_001341826.1:p.Cys609Arg
NM_001354898.2:c.1720T>C	NP_001341827.1:p.Cys574Arg
NM_001354899.2:c.1711T>C	NP_001341828.1:p.Cys571Arg
NM_001354900.2:c.1672T>C	NP_001341829.1:p.Cys558Arg
NM_001354901.2:c.1618T>C	NP_001341830.1:p.Cys540Arg
NM_001354902.2:c.1522T>C	NP_001341831.1:p.Cys508Arg
NM_001354903.2:c.1492T>C	NP_001341832.1:p.Cys498Arg
NM_001354904.2:c.1417T>C	NP_001341833.1:p.Cys473Arg
NM_001354905.2:c.1315T>C	NP_001341834.1:p.Cys439Arg
NM_001354906.2:c.946T>C	NP_001341835.1:p.Cys316Arg