Canonical Allele Identifier: CA16038200

Gene: APC

Linked Data

• ClinVar Variation Id: 1376274
• ClinVar RCV Id: RCV002406981 ; RCV003745373
• dbSNP Id: rs200406572
• MyVariant Identifiers: chr5:g.112179057A>C (hg19) ; chr5:g.112843360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843360A>C , CM000667.2:g.112843360A>C	GRCh38
NC_000005.9:g.112179057A>C , CM000667.1:g.112179057A>C	GRCh37
NC_000005.8:g.112206956A>C	NCBI36
NG_008481.4:g.155840A>C , LRG_130:g.155840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7820A>C	ENSP00000473355.2:p.Glu2607Ala
ENST00000505350.2:c.*7772A>C	ENSP00000481752.1:n.*7772A>C
ENST00000507379.6:c.7712A>C	ENSP00000423224.2:p.Glu2571Ala
ENST00000509732.6:c.7766A>C	ENSP00000426541.2:p.Glu2589Ala
ENST00000512211.7:c.7766A>C	ENSP00000423828.3:p.Glu2589Ala
ENST00000257430.9:c.7766A>C MANE Select	ENSP00000257430.4:p.Glu2589Ala
ENST00000257430.8:c.7766A>C	ENSP00000257430.4:p.Glu2589Ala
ENST00000508376.6:c.7766A>C	ENSP00000427089.2:p.Glu2589Ala
ENST00000520401.1:c.231-13289A>C
NM_000038.5:c.7766A>C	NP_000029.2:p.Glu2589Ala
NM_001127510.2:c.7766A>C	NP_001120982.1:p.Glu2589Ala
NM_001127511.2:c.7712A>C	NP_001120983.2:p.Glu2571Ala
NM_001354895.1:c.7766A>C	NP_001341824.1:p.Glu2589Ala
NM_001354896.1:c.7820A>C	NP_001341825.1:p.Glu2607Ala
NM_001354897.1:c.7796A>C	NP_001341826.1:p.Glu2599Ala
NM_001354898.1:c.7691A>C	NP_001341827.1:p.Glu2564Ala
NM_001354899.1:c.7682A>C	NP_001341828.1:p.Glu2561Ala
NM_001354900.1:c.7643A>C	NP_001341829.1:p.Glu2548Ala
NM_001354901.1:c.7589A>C	NP_001341830.1:p.Glu2530Ala
NM_001354902.1:c.7493A>C	NP_001341831.1:p.Glu2498Ala
NM_001354903.1:c.7463A>C	NP_001341832.1:p.Glu2488Ala
NM_001354904.1:c.7388A>C	NP_001341833.1:p.Glu2463Ala
NM_001354905.1:c.7286A>C	NP_001341834.1:p.Glu2429Ala
NM_001354906.1:c.6917A>C	NP_001341835.1:p.Glu2306Ala
NM_000038.6:c.7766A>C MANE Select	NP_000029.2:p.Glu2589Ala
NM_001127510.3:c.7766A>C	NP_001120982.1:p.Glu2589Ala
NM_001127511.3:c.7712A>C	NP_001120983.2:p.Glu2571Ala
NM_001354895.2:c.7766A>C	NP_001341824.1:p.Glu2589Ala
NM_001354896.2:c.7820A>C	NP_001341825.1:p.Glu2607Ala
NM_001354897.2:c.7796A>C	NP_001341826.1:p.Glu2599Ala
NM_001354898.2:c.7691A>C	NP_001341827.1:p.Glu2564Ala
NM_001354899.2:c.7682A>C	NP_001341828.1:p.Glu2561Ala
NM_001354900.2:c.7643A>C	NP_001341829.1:p.Glu2548Ala
NM_001354901.2:c.7589A>C	NP_001341830.1:p.Glu2530Ala
NM_001354902.2:c.7493A>C	NP_001341831.1:p.Glu2498Ala
NM_001354903.2:c.7463A>C	NP_001341832.1:p.Glu2488Ala
NM_001354904.2:c.7388A>C	NP_001341833.1:p.Glu2463Ala
NM_001354905.2:c.7286A>C	NP_001341834.1:p.Glu2429Ala
NM_001354906.2:c.6917A>C	NP_001341835.1:p.Glu2306Ala