Canonical Allele Identifier: CA16032488

Gene: APC

Linked Data

• ClinVar Variation Id: 951569
• ClinVar RCV Id: RCV003650768
• dbSNP Id: rs1765847340
• MyVariant Identifiers: chr5:g.112176394A>C (hg19) ; chr5:g.112840697A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840697A>C , CM000667.2:g.112840697A>C	GRCh38
NC_000005.9:g.112176394A>C , CM000667.1:g.112176394A>C	GRCh37
NC_000005.8:g.112204293A>C	NCBI36
NG_008481.4:g.153177A>C , LRG_130:g.153177A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5157A>C	ENSP00000473355.2:p.Gln1719His
ENST00000505350.2:c.*5109A>C	ENSP00000481752.1:n.*5109A>C
ENST00000507379.6:c.5049A>C	ENSP00000423224.2:p.Gln1683His
ENST00000509732.6:c.5103A>C	ENSP00000426541.2:p.Gln1701His
ENST00000512211.7:c.5103A>C	ENSP00000423828.3:p.Gln1701His
ENST00000257430.9:c.5103A>C MANE Select	ENSP00000257430.4:p.Gln1701His
ENST00000257430.8:c.5103A>C	ENSP00000257430.4:p.Gln1701His
ENST00000508376.6:c.5103A>C	ENSP00000427089.2:p.Gln1701His
ENST00000508624.5:c.*4425A>C	ENSP00000424265.1:n.*4425A>C
ENST00000520401.1:c.230+11725A>C
NM_000038.5:c.5103A>C	NP_000029.2:p.Gln1701His
NM_001127510.2:c.5103A>C	NP_001120982.1:p.Gln1701His
NM_001127511.2:c.5049A>C	NP_001120983.2:p.Gln1683His
NM_001354895.1:c.5103A>C	NP_001341824.1:p.Gln1701His
NM_001354896.1:c.5157A>C	NP_001341825.1:p.Gln1719His
NM_001354897.1:c.5133A>C	NP_001341826.1:p.Gln1711His
NM_001354898.1:c.5028A>C	NP_001341827.1:p.Gln1676His
NM_001354899.1:c.5019A>C	NP_001341828.1:p.Gln1673His
NM_001354900.1:c.4980A>C	NP_001341829.1:p.Gln1660His
NM_001354901.1:c.4926A>C	NP_001341830.1:p.Gln1642His
NM_001354902.1:c.4830A>C	NP_001341831.1:p.Gln1610His
NM_001354903.1:c.4800A>C	NP_001341832.1:p.Gln1600His
NM_001354904.1:c.4725A>C	NP_001341833.1:p.Gln1575His
NM_001354905.1:c.4623A>C	NP_001341834.1:p.Gln1541His
NM_001354906.1:c.4254A>C	NP_001341835.1:p.Gln1418His
NM_000038.6:c.5103A>C MANE Select	NP_000029.2:p.Gln1701His
NM_001127510.3:c.5103A>C	NP_001120982.1:p.Gln1701His
NM_001127511.3:c.5049A>C	NP_001120983.2:p.Gln1683His
NM_001354895.2:c.5103A>C	NP_001341824.1:p.Gln1701His
NM_001354896.2:c.5157A>C	NP_001341825.1:p.Gln1719His
NM_001354897.2:c.5133A>C	NP_001341826.1:p.Gln1711His
NM_001354898.2:c.5028A>C	NP_001341827.1:p.Gln1676His
NM_001354899.2:c.5019A>C	NP_001341828.1:p.Gln1673His
NM_001354900.2:c.4980A>C	NP_001341829.1:p.Gln1660His
NM_001354901.2:c.4926A>C	NP_001341830.1:p.Gln1642His
NM_001354902.2:c.4830A>C	NP_001341831.1:p.Gln1610His
NM_001354903.2:c.4800A>C	NP_001341832.1:p.Gln1600His
NM_001354904.2:c.4725A>C	NP_001341833.1:p.Gln1575His
NM_001354905.2:c.4623A>C	NP_001341834.1:p.Gln1541His
NM_001354906.2:c.4254A>C	NP_001341835.1:p.Gln1418His