Canonical Allele Identifier: CA16034198

Gene: APC

Linked Data

• ClinVar Variation Id: 482243
• ClinVar RCV Id: RCV000572397 ; RCV004000940
• dbSNP Id: rs957226267
• MyVariant Identifiers: chr5:g.112177172G>C (hg19) ; chr5:g.112841475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841475G>C , CM000667.2:g.112841475G>C	GRCh38
NC_000005.9:g.112177172G>C , CM000667.1:g.112177172G>C	GRCh37
NC_000005.8:g.112205071G>C	NCBI36
NG_008481.4:g.153955G>C , LRG_130:g.153955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5935G>C	ENSP00000473355.2:p.Val1979Leu
ENST00000505350.2:c.*5887G>C	ENSP00000481752.1:n.*5887G>C
ENST00000507379.6:c.5827G>C	ENSP00000423224.2:p.Val1943Leu
ENST00000509732.6:c.5881G>C	ENSP00000426541.2:p.Val1961Leu
ENST00000512211.7:c.5881G>C	ENSP00000423828.3:p.Val1961Leu
ENST00000257430.9:c.5881G>C MANE Select	ENSP00000257430.4:p.Val1961Leu
ENST00000257430.8:c.5881G>C	ENSP00000257430.4:p.Val1961Leu
ENST00000508376.6:c.5881G>C	ENSP00000427089.2:p.Val1961Leu
ENST00000508624.5:c.*5203G>C	ENSP00000424265.1:n.*5203G>C
ENST00000520401.1:c.230+12503G>C
NM_000038.5:c.5881G>C	NP_000029.2:p.Val1961Leu
NM_001127510.2:c.5881G>C	NP_001120982.1:p.Val1961Leu
NM_001127511.2:c.5827G>C	NP_001120983.2:p.Val1943Leu
NM_001354895.1:c.5881G>C	NP_001341824.1:p.Val1961Leu
NM_001354896.1:c.5935G>C	NP_001341825.1:p.Val1979Leu
NM_001354897.1:c.5911G>C	NP_001341826.1:p.Val1971Leu
NM_001354898.1:c.5806G>C	NP_001341827.1:p.Val1936Leu
NM_001354899.1:c.5797G>C	NP_001341828.1:p.Val1933Leu
NM_001354900.1:c.5758G>C	NP_001341829.1:p.Val1920Leu
NM_001354901.1:c.5704G>C	NP_001341830.1:p.Val1902Leu
NM_001354902.1:c.5608G>C	NP_001341831.1:p.Val1870Leu
NM_001354903.1:c.5578G>C	NP_001341832.1:p.Val1860Leu
NM_001354904.1:c.5503G>C	NP_001341833.1:p.Val1835Leu
NM_001354905.1:c.5401G>C	NP_001341834.1:p.Val1801Leu
NM_001354906.1:c.5032G>C	NP_001341835.1:p.Val1678Leu
NM_000038.6:c.5881G>C MANE Select	NP_000029.2:p.Val1961Leu
NM_001127510.3:c.5881G>C	NP_001120982.1:p.Val1961Leu
NM_001127511.3:c.5827G>C	NP_001120983.2:p.Val1943Leu
NM_001354895.2:c.5881G>C	NP_001341824.1:p.Val1961Leu
NM_001354896.2:c.5935G>C	NP_001341825.1:p.Val1979Leu
NM_001354897.2:c.5911G>C	NP_001341826.1:p.Val1971Leu
NM_001354898.2:c.5806G>C	NP_001341827.1:p.Val1936Leu
NM_001354899.2:c.5797G>C	NP_001341828.1:p.Val1933Leu
NM_001354900.2:c.5758G>C	NP_001341829.1:p.Val1920Leu
NM_001354901.2:c.5704G>C	NP_001341830.1:p.Val1902Leu
NM_001354902.2:c.5608G>C	NP_001341831.1:p.Val1870Leu
NM_001354903.2:c.5578G>C	NP_001341832.1:p.Val1860Leu
NM_001354904.2:c.5503G>C	NP_001341833.1:p.Val1835Leu
NM_001354905.2:c.5401G>C	NP_001341834.1:p.Val1801Leu
NM_001354906.2:c.5032G>C	NP_001341835.1:p.Val1678Leu