Canonical Allele Identifier: CA048553

Gene: APC

Linked Data

• ClinVar Variation Id: 219895
• ClinVar RCV Id: RCV000206465 ; RCV000236866 ; RCV000570828 ; RCV003997589
• dbSNP Id: rs750012595
• ExAC: 5:112178868 A / G
• gnomAD v2: 5-112178868-A-G
• gnomAD v4: 5-112843171-A-G
• MyVariant Identifiers: chr5:g.112178868A>G (hg19) ; chr5:g.112843171A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843171A>G , CM000667.2:g.112843171A>G	GRCh38
NC_000005.9:g.112178868A>G , CM000667.1:g.112178868A>G	GRCh37
NC_000005.8:g.112206767A>G	NCBI36
NG_008481.4:g.155651A>G , LRG_130:g.155651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7631A>G	ENSP00000473355.2:p.His2544Arg
ENST00000505350.2:c.*7583A>G	ENSP00000481752.1:n.*7583A>G
ENST00000507379.6:c.7523A>G	ENSP00000423224.2:p.His2508Arg
ENST00000509732.6:c.7577A>G	ENSP00000426541.2:p.His2526Arg
ENST00000512211.7:c.7577A>G	ENSP00000423828.3:p.His2526Arg
ENST00000257430.9:c.7577A>G MANE Select	ENSP00000257430.4:p.His2526Arg
ENST00000257430.8:c.7577A>G	ENSP00000257430.4:p.His2526Arg
ENST00000508376.6:c.7577A>G	ENSP00000427089.2:p.His2526Arg
ENST00000520401.1:c.231-13478A>G
NM_000038.5:c.7577A>G	NP_000029.2:p.His2526Arg
NM_001127510.2:c.7577A>G	NP_001120982.1:p.His2526Arg
NM_001127511.2:c.7523A>G	NP_001120983.2:p.His2508Arg
NM_001354895.1:c.7577A>G	NP_001341824.1:p.His2526Arg
NM_001354896.1:c.7631A>G	NP_001341825.1:p.His2544Arg
NM_001354897.1:c.7607A>G	NP_001341826.1:p.His2536Arg
NM_001354898.1:c.7502A>G	NP_001341827.1:p.His2501Arg
NM_001354899.1:c.7493A>G	NP_001341828.1:p.His2498Arg
NM_001354900.1:c.7454A>G	NP_001341829.1:p.His2485Arg
NM_001354901.1:c.7400A>G	NP_001341830.1:p.His2467Arg
NM_001354902.1:c.7304A>G	NP_001341831.1:p.His2435Arg
NM_001354903.1:c.7274A>G	NP_001341832.1:p.His2425Arg
NM_001354904.1:c.7199A>G	NP_001341833.1:p.His2400Arg
NM_001354905.1:c.7097A>G	NP_001341834.1:p.His2366Arg
NM_001354906.1:c.6728A>G	NP_001341835.1:p.His2243Arg
NM_000038.6:c.7577A>G MANE Select	NP_000029.2:p.His2526Arg
NM_001127510.3:c.7577A>G	NP_001120982.1:p.His2526Arg
NM_001127511.3:c.7523A>G	NP_001120983.2:p.His2508Arg
NM_001354895.2:c.7577A>G	NP_001341824.1:p.His2526Arg
NM_001354896.2:c.7631A>G	NP_001341825.1:p.His2544Arg
NM_001354897.2:c.7607A>G	NP_001341826.1:p.His2536Arg
NM_001354898.2:c.7502A>G	NP_001341827.1:p.His2501Arg
NM_001354899.2:c.7493A>G	NP_001341828.1:p.His2498Arg
NM_001354900.2:c.7454A>G	NP_001341829.1:p.His2485Arg
NM_001354901.2:c.7400A>G	NP_001341830.1:p.His2467Arg
NM_001354902.2:c.7304A>G	NP_001341831.1:p.His2435Arg
NM_001354903.2:c.7274A>G	NP_001341832.1:p.His2425Arg
NM_001354904.2:c.7199A>G	NP_001341833.1:p.His2400Arg
NM_001354905.2:c.7097A>G	NP_001341834.1:p.His2366Arg
NM_001354906.2:c.6728A>G	NP_001341835.1:p.His2243Arg