Canonical Allele Identifier: CA16036823

Gene: APC

Linked Data

• ClinVar Variation Id: 826849
• ClinVar RCV Id: RCV001026057 ; RCV002551948 ; RCV003336271
• dbSNP Id: rs1580678722
• MyVariant Identifiers: chr5:g.112178405C>T (hg19) ; chr5:g.112842708C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842708C>T , CM000667.2:g.112842708C>T	GRCh38
NC_000005.9:g.112178405C>T , CM000667.1:g.112178405C>T	GRCh37
NC_000005.8:g.112206304C>T	NCBI36
NG_008481.4:g.155188C>T , LRG_130:g.155188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7168C>T	ENSP00000473355.2:p.Gln2390Ter
ENST00000505350.2:c.*7120C>T	ENSP00000481752.1:n.*7120C>T
ENST00000507379.6:c.7060C>T	ENSP00000423224.2:p.Gln2354Ter
ENST00000509732.6:c.7114C>T	ENSP00000426541.2:p.Gln2372Ter
ENST00000512211.7:c.7114C>T	ENSP00000423828.3:p.Gln2372Ter
ENST00000257430.9:c.7114C>T MANE Select	ENSP00000257430.4:p.Gln2372Ter
ENST00000257430.8:c.7114C>T	ENSP00000257430.4:p.Gln2372Ter
ENST00000508376.6:c.7114C>T	ENSP00000427089.2:p.Gln2372Ter
ENST00000508624.5:c.*6436C>T	ENSP00000424265.1:n.*6436C>T
ENST00000520401.1:c.230+13736C>T
NM_000038.5:c.7114C>T	NP_000029.2:p.Gln2372Ter
NM_001127510.2:c.7114C>T	NP_001120982.1:p.Gln2372Ter
NM_001127511.2:c.7060C>T	NP_001120983.2:p.Gln2354Ter
NM_001354895.1:c.7114C>T	NP_001341824.1:p.Gln2372Ter
NM_001354896.1:c.7168C>T	NP_001341825.1:p.Gln2390Ter
NM_001354897.1:c.7144C>T	NP_001341826.1:p.Gln2382Ter
NM_001354898.1:c.7039C>T	NP_001341827.1:p.Gln2347Ter
NM_001354899.1:c.7030C>T	NP_001341828.1:p.Gln2344Ter
NM_001354900.1:c.6991C>T	NP_001341829.1:p.Gln2331Ter
NM_001354901.1:c.6937C>T	NP_001341830.1:p.Gln2313Ter
NM_001354902.1:c.6841C>T	NP_001341831.1:p.Gln2281Ter
NM_001354903.1:c.6811C>T	NP_001341832.1:p.Gln2271Ter
NM_001354904.1:c.6736C>T	NP_001341833.1:p.Gln2246Ter
NM_001354905.1:c.6634C>T	NP_001341834.1:p.Gln2212Ter
NM_001354906.1:c.6265C>T	NP_001341835.1:p.Gln2089Ter
NM_000038.6:c.7114C>T MANE Select	NP_000029.2:p.Gln2372Ter
NM_001127510.3:c.7114C>T	NP_001120982.1:p.Gln2372Ter
NM_001127511.3:c.7060C>T	NP_001120983.2:p.Gln2354Ter
NM_001354895.2:c.7114C>T	NP_001341824.1:p.Gln2372Ter
NM_001354896.2:c.7168C>T	NP_001341825.1:p.Gln2390Ter
NM_001354897.2:c.7144C>T	NP_001341826.1:p.Gln2382Ter
NM_001354898.2:c.7039C>T	NP_001341827.1:p.Gln2347Ter
NM_001354899.2:c.7030C>T	NP_001341828.1:p.Gln2344Ter
NM_001354900.2:c.6991C>T	NP_001341829.1:p.Gln2331Ter
NM_001354901.2:c.6937C>T	NP_001341830.1:p.Gln2313Ter
NM_001354902.2:c.6841C>T	NP_001341831.1:p.Gln2281Ter
NM_001354903.2:c.6811C>T	NP_001341832.1:p.Gln2271Ter
NM_001354904.2:c.6736C>T	NP_001341833.1:p.Gln2246Ter
NM_001354905.2:c.6634C>T	NP_001341834.1:p.Gln2212Ter
NM_001354906.2:c.6265C>T	NP_001341835.1:p.Gln2089Ter