Canonical Allele Identifier: CA16027988

Gene: APC

Linked Data

• ClinVar Variation Id: 2429514
• ClinVar RCV Id: RCV003126968 ; RCV004009587
• MyVariant Identifiers: chr5:g.112174332T>G (hg19) ; chr5:g.112838635T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838635T>G , CM000667.2:g.112838635T>G	GRCh38
NC_000005.9:g.112174332T>G , CM000667.1:g.112174332T>G	GRCh37
NC_000005.8:g.112202231T>G	NCBI36
NG_008481.4:g.151115T>G , LRG_130:g.151115T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2706T>G	ENSP00000484935.2:n.2706T>G
ENST00000504915.3:c.3095T>G	ENSP00000473355.2:p.Met1032Arg
ENST00000505350.2:c.*3047T>G	ENSP00000481752.1:n.*3047T>G
ENST00000507379.6:c.2987T>G	ENSP00000423224.2:p.Met996Arg
ENST00000509732.6:c.3041T>G	ENSP00000426541.2:p.Met1014Arg
ENST00000512211.7:c.3041T>G	ENSP00000423828.3:p.Met1014Arg
ENST00000257430.9:c.3041T>G MANE Select	ENSP00000257430.4:p.Met1014Arg
ENST00000257430.8:c.3041T>G	ENSP00000257430.4:p.Met1014Arg
ENST00000502371.2:c.1394T>G
ENST00000507379.5:c.2987T>G	ENSP00000423224.1:p.Met996Arg
ENST00000508376.6:c.3041T>G	ENSP00000427089.2:p.Met1014Arg
ENST00000508624.5:c.*2363T>G	ENSP00000424265.1:n.*2363T>G
ENST00000512211.6:c.3041T>G	ENSP00000423828.2:p.Met1014Arg
ENST00000520401.1:c.230+9663T>G
NM_000038.5:c.3041T>G	NP_000029.2:p.Met1014Arg
NM_001127510.2:c.3041T>G	NP_001120982.1:p.Met1014Arg
NM_001127511.2:c.2987T>G	NP_001120983.2:p.Met996Arg
NM_001354895.1:c.3041T>G	NP_001341824.1:p.Met1014Arg
NM_001354896.1:c.3095T>G	NP_001341825.1:p.Met1032Arg
NM_001354897.1:c.3071T>G	NP_001341826.1:p.Met1024Arg
NM_001354898.1:c.2966T>G	NP_001341827.1:p.Met989Arg
NM_001354899.1:c.2957T>G	NP_001341828.1:p.Met986Arg
NM_001354900.1:c.2918T>G	NP_001341829.1:p.Met973Arg
NM_001354901.1:c.2864T>G	NP_001341830.1:p.Met955Arg
NM_001354902.1:c.2768T>G	NP_001341831.1:p.Met923Arg
NM_001354903.1:c.2738T>G	NP_001341832.1:p.Met913Arg
NM_001354904.1:c.2663T>G	NP_001341833.1:p.Met888Arg
NM_001354905.1:c.2561T>G	NP_001341834.1:p.Met854Arg
NM_001354906.1:c.2192T>G	NP_001341835.1:p.Met731Arg
NM_000038.6:c.3041T>G MANE Select	NP_000029.2:p.Met1014Arg
NM_001127510.3:c.3041T>G	NP_001120982.1:p.Met1014Arg
NM_001127511.3:c.2987T>G	NP_001120983.2:p.Met996Arg
NM_001354895.2:c.3041T>G	NP_001341824.1:p.Met1014Arg
NM_001354896.2:c.3095T>G	NP_001341825.1:p.Met1032Arg
NM_001354897.2:c.3071T>G	NP_001341826.1:p.Met1024Arg
NM_001354898.2:c.2966T>G	NP_001341827.1:p.Met989Arg
NM_001354899.2:c.2957T>G	NP_001341828.1:p.Met986Arg
NM_001354900.2:c.2918T>G	NP_001341829.1:p.Met973Arg
NM_001354901.2:c.2864T>G	NP_001341830.1:p.Met955Arg
NM_001354902.2:c.2768T>G	NP_001341831.1:p.Met923Arg
NM_001354903.2:c.2738T>G	NP_001341832.1:p.Met913Arg
NM_001354904.2:c.2663T>G	NP_001341833.1:p.Met888Arg
NM_001354905.2:c.2561T>G	NP_001341834.1:p.Met854Arg
NM_001354906.2:c.2192T>G	NP_001341835.1:p.Met731Arg