Canonical Allele Identifier: CA446211186

Gene: APC

Linked Data

• dbSNP Id: rs1349932262
• gnomAD v2: 5-112179031-C-A
• gnomAD v4: 5-112843334-C-A
• MyVariant Identifiers: chr5:g.112179031C>A (hg19) ; chr5:g.112843334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843334C>A , CM000667.2:g.112843334C>A	GRCh38
NC_000005.9:g.112179031C>A , CM000667.1:g.112179031C>A	GRCh37
NC_000005.8:g.112206930C>A	NCBI36
NG_008481.4:g.155814C>A , LRG_130:g.155814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7794C>A	ENSP00000473355.2:p.Ser2598=
ENST00000505350.2:c.*7746C>A	ENSP00000481752.1:n.*7746C>A
ENST00000507379.6:c.7686C>A	ENSP00000423224.2:p.Ser2562=
ENST00000509732.6:c.7740C>A	ENSP00000426541.2:p.Ser2580=
ENST00000512211.7:c.7740C>A	ENSP00000423828.3:p.Ser2580=
ENST00000257430.9:c.7740C>A MANE Select	ENSP00000257430.4:p.Ser2580=
ENST00000257430.8:c.7740C>A	ENSP00000257430.4:p.Ser2580=
ENST00000508376.6:c.7740C>A	ENSP00000427089.2:p.Ser2580=
ENST00000520401.1:c.231-13315C>A
NM_000038.5:c.7740C>A	NP_000029.2:p.Ser2580=
NM_001127510.2:c.7740C>A	NP_001120982.1:p.Ser2580=
NM_001127511.2:c.7686C>A	NP_001120983.2:p.Ser2562=
NM_001354895.1:c.7740C>A	NP_001341824.1:p.Ser2580=
NM_001354896.1:c.7794C>A	NP_001341825.1:p.Ser2598=
NM_001354897.1:c.7770C>A	NP_001341826.1:p.Ser2590=
NM_001354898.1:c.7665C>A	NP_001341827.1:p.Ser2555=
NM_001354899.1:c.7656C>A	NP_001341828.1:p.Ser2552=
NM_001354900.1:c.7617C>A	NP_001341829.1:p.Ser2539=
NM_001354901.1:c.7563C>A	NP_001341830.1:p.Ser2521=
NM_001354902.1:c.7467C>A	NP_001341831.1:p.Ser2489=
NM_001354903.1:c.7437C>A	NP_001341832.1:p.Ser2479=
NM_001354904.1:c.7362C>A	NP_001341833.1:p.Ser2454=
NM_001354905.1:c.7260C>A	NP_001341834.1:p.Ser2420=
NM_001354906.1:c.6891C>A	NP_001341835.1:p.Ser2297=
NM_000038.6:c.7740C>A MANE Select	NP_000029.2:p.Ser2580=
NM_001127510.3:c.7740C>A	NP_001120982.1:p.Ser2580=
NM_001127511.3:c.7686C>A	NP_001120983.2:p.Ser2562=
NM_001354895.2:c.7740C>A	NP_001341824.1:p.Ser2580=
NM_001354896.2:c.7794C>A	NP_001341825.1:p.Ser2598=
NM_001354897.2:c.7770C>A	NP_001341826.1:p.Ser2590=
NM_001354898.2:c.7665C>A	NP_001341827.1:p.Ser2555=
NM_001354899.2:c.7656C>A	NP_001341828.1:p.Ser2552=
NM_001354900.2:c.7617C>A	NP_001341829.1:p.Ser2539=
NM_001354901.2:c.7563C>A	NP_001341830.1:p.Ser2521=
NM_001354902.2:c.7467C>A	NP_001341831.1:p.Ser2489=
NM_001354903.2:c.7437C>A	NP_001341832.1:p.Ser2479=
NM_001354904.2:c.7362C>A	NP_001341833.1:p.Ser2454=
NM_001354905.2:c.7260C>A	NP_001341834.1:p.Ser2420=
NM_001354906.2:c.6891C>A	NP_001341835.1:p.Ser2297=