Canonical Allele Identifier: CA16038428

Gene: APC

Linked Data

• ClinVar Variation Id: 1504411
• ClinVar RCV Id: RCV003773357
• dbSNP Id: rs2149995200
• MyVariant Identifiers: chr5:g.112179159C>A (hg19) ; chr5:g.112843462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843462C>A , CM000667.2:g.112843462C>A	GRCh38
NC_000005.9:g.112179159C>A , CM000667.1:g.112179159C>A	GRCh37
NC_000005.8:g.112207058C>A	NCBI36
NG_008481.4:g.155942C>A , LRG_130:g.155942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7922C>A	ENSP00000473355.2:p.Thr2641Lys
ENST00000505350.2:c.*7874C>A	ENSP00000481752.1:n.*7874C>A
ENST00000507379.6:c.7814C>A	ENSP00000423224.2:p.Thr2605Lys
ENST00000509732.6:c.7868C>A	ENSP00000426541.2:p.Thr2623Lys
ENST00000512211.7:c.7868C>A	ENSP00000423828.3:p.Thr2623Lys
ENST00000257430.9:c.7868C>A MANE Select	ENSP00000257430.4:p.Thr2623Lys
ENST00000257430.8:c.7868C>A	ENSP00000257430.4:p.Thr2623Lys
ENST00000508376.6:c.7868C>A	ENSP00000427089.2:p.Thr2623Lys
ENST00000520401.1:c.231-13187C>A
NM_000038.5:c.7868C>A	NP_000029.2:p.Thr2623Lys
NM_001127510.2:c.7868C>A	NP_001120982.1:p.Thr2623Lys
NM_001127511.2:c.7814C>A	NP_001120983.2:p.Thr2605Lys
NM_001354895.1:c.7868C>A	NP_001341824.1:p.Thr2623Lys
NM_001354896.1:c.7922C>A	NP_001341825.1:p.Thr2641Lys
NM_001354897.1:c.7898C>A	NP_001341826.1:p.Thr2633Lys
NM_001354898.1:c.7793C>A	NP_001341827.1:p.Thr2598Lys
NM_001354899.1:c.7784C>A	NP_001341828.1:p.Thr2595Lys
NM_001354900.1:c.7745C>A	NP_001341829.1:p.Thr2582Lys
NM_001354901.1:c.7691C>A	NP_001341830.1:p.Thr2564Lys
NM_001354902.1:c.7595C>A	NP_001341831.1:p.Thr2532Lys
NM_001354903.1:c.7565C>A	NP_001341832.1:p.Thr2522Lys
NM_001354904.1:c.7490C>A	NP_001341833.1:p.Thr2497Lys
NM_001354905.1:c.7388C>A	NP_001341834.1:p.Thr2463Lys
NM_001354906.1:c.7019C>A	NP_001341835.1:p.Thr2340Lys
NM_000038.6:c.7868C>A MANE Select	NP_000029.2:p.Thr2623Lys
NM_001127510.3:c.7868C>A	NP_001120982.1:p.Thr2623Lys
NM_001127511.3:c.7814C>A	NP_001120983.2:p.Thr2605Lys
NM_001354895.2:c.7868C>A	NP_001341824.1:p.Thr2623Lys
NM_001354896.2:c.7922C>A	NP_001341825.1:p.Thr2641Lys
NM_001354897.2:c.7898C>A	NP_001341826.1:p.Thr2633Lys
NM_001354898.2:c.7793C>A	NP_001341827.1:p.Thr2598Lys
NM_001354899.2:c.7784C>A	NP_001341828.1:p.Thr2595Lys
NM_001354900.2:c.7745C>A	NP_001341829.1:p.Thr2582Lys
NM_001354901.2:c.7691C>A	NP_001341830.1:p.Thr2564Lys
NM_001354902.2:c.7595C>A	NP_001341831.1:p.Thr2532Lys
NM_001354903.2:c.7565C>A	NP_001341832.1:p.Thr2522Lys
NM_001354904.2:c.7490C>A	NP_001341833.1:p.Thr2497Lys
NM_001354905.2:c.7388C>A	NP_001341834.1:p.Thr2463Lys
NM_001354906.2:c.7019C>A	NP_001341835.1:p.Thr2340Lys