Canonical Allele Identifier: CA16028066

Gene: APC

Linked Data

• ClinVar Variation Id: 2572920
• ClinVar RCV Id: RCV003315034 ; RCV003777285
• MyVariant Identifiers: chr5:g.112174366A>G (hg19) ; chr5:g.112838669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838669A>G , CM000667.2:g.112838669A>G	GRCh38
NC_000005.9:g.112174366A>G , CM000667.1:g.112174366A>G	GRCh37
NC_000005.8:g.112202265A>G	NCBI36
NG_008481.4:g.151149A>G , LRG_130:g.151149A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2740A>G	ENSP00000484935.2:n.2740A>G
ENST00000504915.3:c.3129A>G	ENSP00000473355.2:p.Ile1043Met
ENST00000505350.2:c.*3081A>G	ENSP00000481752.1:n.*3081A>G
ENST00000507379.6:c.3021A>G	ENSP00000423224.2:p.Ile1007Met
ENST00000509732.6:c.3075A>G	ENSP00000426541.2:p.Ile1025Met
ENST00000512211.7:c.3075A>G	ENSP00000423828.3:p.Ile1025Met
ENST00000257430.9:c.3075A>G MANE Select	ENSP00000257430.4:p.Ile1025Met
ENST00000257430.8:c.3075A>G	ENSP00000257430.4:p.Ile1025Met
ENST00000502371.2:c.1428A>G
ENST00000507379.5:c.3021A>G	ENSP00000423224.1:p.Ile1007Met
ENST00000508376.6:c.3075A>G	ENSP00000427089.2:p.Ile1025Met
ENST00000508624.5:c.*2397A>G	ENSP00000424265.1:n.*2397A>G
ENST00000512211.6:c.3075A>G	ENSP00000423828.2:p.Ile1025Met
ENST00000520401.1:c.230+9697A>G
NM_000038.5:c.3075A>G	NP_000029.2:p.Ile1025Met
NM_001127510.2:c.3075A>G	NP_001120982.1:p.Ile1025Met
NM_001127511.2:c.3021A>G	NP_001120983.2:p.Ile1007Met
NM_001354895.1:c.3075A>G	NP_001341824.1:p.Ile1025Met
NM_001354896.1:c.3129A>G	NP_001341825.1:p.Ile1043Met
NM_001354897.1:c.3105A>G	NP_001341826.1:p.Ile1035Met
NM_001354898.1:c.3000A>G	NP_001341827.1:p.Ile1000Met
NM_001354899.1:c.2991A>G	NP_001341828.1:p.Ile997Met
NM_001354900.1:c.2952A>G	NP_001341829.1:p.Ile984Met
NM_001354901.1:c.2898A>G	NP_001341830.1:p.Ile966Met
NM_001354902.1:c.2802A>G	NP_001341831.1:p.Ile934Met
NM_001354903.1:c.2772A>G	NP_001341832.1:p.Ile924Met
NM_001354904.1:c.2697A>G	NP_001341833.1:p.Ile899Met
NM_001354905.1:c.2595A>G	NP_001341834.1:p.Ile865Met
NM_001354906.1:c.2226A>G	NP_001341835.1:p.Ile742Met
NM_000038.6:c.3075A>G MANE Select	NP_000029.2:p.Ile1025Met
NM_001127510.3:c.3075A>G	NP_001120982.1:p.Ile1025Met
NM_001127511.3:c.3021A>G	NP_001120983.2:p.Ile1007Met
NM_001354895.2:c.3075A>G	NP_001341824.1:p.Ile1025Met
NM_001354896.2:c.3129A>G	NP_001341825.1:p.Ile1043Met
NM_001354897.2:c.3105A>G	NP_001341826.1:p.Ile1035Met
NM_001354898.2:c.3000A>G	NP_001341827.1:p.Ile1000Met
NM_001354899.2:c.2991A>G	NP_001341828.1:p.Ile997Met
NM_001354900.2:c.2952A>G	NP_001341829.1:p.Ile984Met
NM_001354901.2:c.2898A>G	NP_001341830.1:p.Ile966Met
NM_001354902.2:c.2802A>G	NP_001341831.1:p.Ile934Met
NM_001354903.2:c.2772A>G	NP_001341832.1:p.Ile924Met
NM_001354904.2:c.2697A>G	NP_001341833.1:p.Ile899Met
NM_001354905.2:c.2595A>G	NP_001341834.1:p.Ile865Met
NM_001354906.2:c.2226A>G	NP_001341835.1:p.Ile742Met