Canonical Allele Identifier: CA16037789

Gene: APC

Linked Data

• ClinVar Variation Id: 2100054
• ClinVar RCV Id: RCV003744890
• dbSNP Id: rs774952444
• gnomAD v4: 5-112843167-C-A
• MyVariant Identifiers: chr5:g.112178864C>A (hg19) ; chr5:g.112843167C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843167C>A , CM000667.2:g.112843167C>A	GRCh38
NC_000005.9:g.112178864C>A , CM000667.1:g.112178864C>A	GRCh37
NC_000005.8:g.112206763C>A	NCBI36
NG_008481.4:g.155647C>A , LRG_130:g.155647C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7627C>A	ENSP00000473355.2:p.Arg2543Ser
ENST00000505350.2:c.*7579C>A	ENSP00000481752.1:n.*7579C>A
ENST00000507379.6:c.7519C>A	ENSP00000423224.2:p.Arg2507Ser
ENST00000509732.6:c.7573C>A	ENSP00000426541.2:p.Arg2525Ser
ENST00000512211.7:c.7573C>A	ENSP00000423828.3:p.Arg2525Ser
ENST00000257430.9:c.7573C>A MANE Select	ENSP00000257430.4:p.Arg2525Ser
ENST00000257430.8:c.7573C>A	ENSP00000257430.4:p.Arg2525Ser
ENST00000508376.6:c.7573C>A	ENSP00000427089.2:p.Arg2525Ser
ENST00000520401.1:c.231-13482C>A
NM_000038.5:c.7573C>A	NP_000029.2:p.Arg2525Ser
NM_001127510.2:c.7573C>A	NP_001120982.1:p.Arg2525Ser
NM_001127511.2:c.7519C>A	NP_001120983.2:p.Arg2507Ser
NM_001354895.1:c.7573C>A	NP_001341824.1:p.Arg2525Ser
NM_001354896.1:c.7627C>A	NP_001341825.1:p.Arg2543Ser
NM_001354897.1:c.7603C>A	NP_001341826.1:p.Arg2535Ser
NM_001354898.1:c.7498C>A	NP_001341827.1:p.Arg2500Ser
NM_001354899.1:c.7489C>A	NP_001341828.1:p.Arg2497Ser
NM_001354900.1:c.7450C>A	NP_001341829.1:p.Arg2484Ser
NM_001354901.1:c.7396C>A	NP_001341830.1:p.Arg2466Ser
NM_001354902.1:c.7300C>A	NP_001341831.1:p.Arg2434Ser
NM_001354903.1:c.7270C>A	NP_001341832.1:p.Arg2424Ser
NM_001354904.1:c.7195C>A	NP_001341833.1:p.Arg2399Ser
NM_001354905.1:c.7093C>A	NP_001341834.1:p.Arg2365Ser
NM_001354906.1:c.6724C>A	NP_001341835.1:p.Arg2242Ser
NM_000038.6:c.7573C>A MANE Select	NP_000029.2:p.Arg2525Ser
NM_001127510.3:c.7573C>A	NP_001120982.1:p.Arg2525Ser
NM_001127511.3:c.7519C>A	NP_001120983.2:p.Arg2507Ser
NM_001354895.2:c.7573C>A	NP_001341824.1:p.Arg2525Ser
NM_001354896.2:c.7627C>A	NP_001341825.1:p.Arg2543Ser
NM_001354897.2:c.7603C>A	NP_001341826.1:p.Arg2535Ser
NM_001354898.2:c.7498C>A	NP_001341827.1:p.Arg2500Ser
NM_001354899.2:c.7489C>A	NP_001341828.1:p.Arg2497Ser
NM_001354900.2:c.7450C>A	NP_001341829.1:p.Arg2484Ser
NM_001354901.2:c.7396C>A	NP_001341830.1:p.Arg2466Ser
NM_001354902.2:c.7300C>A	NP_001341831.1:p.Arg2434Ser
NM_001354903.2:c.7270C>A	NP_001341832.1:p.Arg2424Ser
NM_001354904.2:c.7195C>A	NP_001341833.1:p.Arg2399Ser
NM_001354905.2:c.7093C>A	NP_001341834.1:p.Arg2365Ser
NM_001354906.2:c.6724C>A	NP_001341835.1:p.Arg2242Ser