Canonical Allele Identifier: CA446211136

Gene: APC

Linked Data

• ClinVar Variation Id: 794650
• ClinVar RCV Id: RCV002400139 ; RCV002548427
• dbSNP Id: rs1580685620
• MyVariant Identifiers: chr5:g.112178977C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843280C>T , CM000667.2:g.112843280C>T	GRCh38
NC_000005.9:g.112178977C>T , CM000667.1:g.112178977C>T	GRCh37
NC_000005.8:g.112206876C>T	NCBI36
NG_008481.4:g.155760C>T , LRG_130:g.155760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7740C>T	ENSP00000473355.2:p.Ser2580=
ENST00000505350.2:c.*7692C>T	ENSP00000481752.1:n.*7692C>T
ENST00000507379.6:c.7632C>T	ENSP00000423224.2:p.Ser2544=
ENST00000509732.6:c.7686C>T	ENSP00000426541.2:p.Ser2562=
ENST00000512211.7:c.7686C>T	ENSP00000423828.3:p.Ser2562=
ENST00000257430.9:c.7686C>T MANE Select	ENSP00000257430.4:p.Ser2562=
ENST00000257430.8:c.7686C>T	ENSP00000257430.4:p.Ser2562=
ENST00000508376.6:c.7686C>T	ENSP00000427089.2:p.Ser2562=
ENST00000520401.1:c.231-13369C>T
NM_000038.5:c.7686C>T	NP_000029.2:p.Ser2562=
NM_001127510.2:c.7686C>T	NP_001120982.1:p.Ser2562=
NM_001127511.2:c.7632C>T	NP_001120983.2:p.Ser2544=
NM_001354895.1:c.7686C>T	NP_001341824.1:p.Ser2562=
NM_001354896.1:c.7740C>T	NP_001341825.1:p.Ser2580=
NM_001354897.1:c.7716C>T	NP_001341826.1:p.Ser2572=
NM_001354898.1:c.7611C>T	NP_001341827.1:p.Ser2537=
NM_001354899.1:c.7602C>T	NP_001341828.1:p.Ser2534=
NM_001354900.1:c.7563C>T	NP_001341829.1:p.Ser2521=
NM_001354901.1:c.7509C>T	NP_001341830.1:p.Ser2503=
NM_001354902.1:c.7413C>T	NP_001341831.1:p.Ser2471=
NM_001354903.1:c.7383C>T	NP_001341832.1:p.Ser2461=
NM_001354904.1:c.7308C>T	NP_001341833.1:p.Ser2436=
NM_001354905.1:c.7206C>T	NP_001341834.1:p.Ser2402=
NM_001354906.1:c.6837C>T	NP_001341835.1:p.Ser2279=
NM_000038.6:c.7686C>T MANE Select	NP_000029.2:p.Ser2562=
NM_001127510.3:c.7686C>T	NP_001120982.1:p.Ser2562=
NM_001127511.3:c.7632C>T	NP_001120983.2:p.Ser2544=
NM_001354895.2:c.7686C>T	NP_001341824.1:p.Ser2562=
NM_001354896.2:c.7740C>T	NP_001341825.1:p.Ser2580=
NM_001354897.2:c.7716C>T	NP_001341826.1:p.Ser2572=
NM_001354898.2:c.7611C>T	NP_001341827.1:p.Ser2537=
NM_001354899.2:c.7602C>T	NP_001341828.1:p.Ser2534=
NM_001354900.2:c.7563C>T	NP_001341829.1:p.Ser2521=
NM_001354901.2:c.7509C>T	NP_001341830.1:p.Ser2503=
NM_001354902.2:c.7413C>T	NP_001341831.1:p.Ser2471=
NM_001354903.2:c.7383C>T	NP_001341832.1:p.Ser2461=
NM_001354904.2:c.7308C>T	NP_001341833.1:p.Ser2436=
NM_001354905.2:c.7206C>T	NP_001341834.1:p.Ser2402=
NM_001354906.2:c.6837C>T	NP_001341835.1:p.Ser2279=