Canonical Allele Identifier: CA16025183

Gene: APC

Linked Data

• dbSNP Id: rs2149841176
• MyVariant Identifiers: chr5:g.112170673G>C (hg19) ; chr5:g.112834976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834976G>C , CM000667.2:g.112834976G>C	GRCh38
NC_000005.9:g.112170673G>C , CM000667.1:g.112170673G>C	GRCh37
NC_000005.8:g.112198572G>C	NCBI36
NG_008481.4:g.147456G>C , LRG_130:g.147456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1434G>C	ENSP00000484935.2:p.Glu478Asp
ENST00000504915.3:c.1823G>C	ENSP00000473355.2:p.Ser608Thr
ENST00000505350.2:c.*1775G>C	ENSP00000481752.1:n.*1775G>C
ENST00000507379.6:c.1715G>C	ENSP00000423224.2:p.Ser572Thr
ENST00000509732.6:c.1769G>C	ENSP00000426541.2:p.Ser590Thr
ENST00000512211.7:c.1769G>C	ENSP00000423828.3:p.Ser590Thr
ENST00000257430.9:c.1769G>C MANE Select	ENSP00000257430.4:p.Ser590Thr
ENST00000257430.8:c.1769G>C	ENSP00000257430.4:p.Ser590Thr
ENST00000502371.2:c.122G>C
ENST00000504915.2:c.458G>C	ENSP00000473355.1:p.Ser153Thr
ENST00000507379.5:c.1715G>C	ENSP00000423224.1:p.Ser572Thr
ENST00000508376.6:c.1769G>C	ENSP00000427089.2:p.Ser590Thr
ENST00000508624.5:c.*1091G>C	ENSP00000424265.1:n.*1091G>C
ENST00000512211.6:c.1769G>C	ENSP00000423828.2:p.Ser590Thr
ENST00000520401.1:c.230+6004G>C
NM_000038.5:c.1769G>C	NP_000029.2:p.Ser590Thr
NM_001127510.2:c.1769G>C	NP_001120982.1:p.Ser590Thr
NM_001127511.2:c.1715G>C	NP_001120983.2:p.Ser572Thr
NM_001354895.1:c.1769G>C	NP_001341824.1:p.Ser590Thr
NM_001354896.1:c.1823G>C	NP_001341825.1:p.Ser608Thr
NM_001354897.1:c.1799G>C	NP_001341826.1:p.Ser600Thr
NM_001354898.1:c.1694G>C	NP_001341827.1:p.Ser565Thr
NM_001354899.1:c.1685G>C	NP_001341828.1:p.Ser562Thr
NM_001354900.1:c.1646G>C	NP_001341829.1:p.Ser549Thr
NM_001354901.1:c.1592G>C	NP_001341830.1:p.Ser531Thr
NM_001354902.1:c.1496G>C	NP_001341831.1:p.Ser499Thr
NM_001354903.1:c.1466G>C	NP_001341832.1:p.Ser489Thr
NM_001354904.1:c.1391G>C	NP_001341833.1:p.Ser464Thr
NM_001354905.1:c.1289G>C	NP_001341834.1:p.Ser430Thr
NM_001354906.1:c.920G>C	NP_001341835.1:p.Ser307Thr
NM_000038.6:c.1769G>C MANE Select	NP_000029.2:p.Ser590Thr
NM_001127510.3:c.1769G>C	NP_001120982.1:p.Ser590Thr
NM_001127511.3:c.1715G>C	NP_001120983.2:p.Ser572Thr
NM_001354895.2:c.1769G>C	NP_001341824.1:p.Ser590Thr
NM_001354896.2:c.1823G>C	NP_001341825.1:p.Ser608Thr
NM_001354897.2:c.1799G>C	NP_001341826.1:p.Ser600Thr
NM_001354898.2:c.1694G>C	NP_001341827.1:p.Ser565Thr
NM_001354899.2:c.1685G>C	NP_001341828.1:p.Ser562Thr
NM_001354900.2:c.1646G>C	NP_001341829.1:p.Ser549Thr
NM_001354901.2:c.1592G>C	NP_001341830.1:p.Ser531Thr
NM_001354902.2:c.1496G>C	NP_001341831.1:p.Ser499Thr
NM_001354903.2:c.1466G>C	NP_001341832.1:p.Ser489Thr
NM_001354904.2:c.1391G>C	NP_001341833.1:p.Ser464Thr
NM_001354905.2:c.1289G>C	NP_001341834.1:p.Ser430Thr
NM_001354906.2:c.920G>C	NP_001341835.1:p.Ser307Thr