Canonical Allele Identifier: CA16037612

Gene: APC

Linked Data

• dbSNP Id: rs2149988085
• MyVariant Identifiers: chr5:g.112178777C>A (hg19) ; chr5:g.112843080C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843080C>A , CM000667.2:g.112843080C>A	GRCh38
NC_000005.9:g.112178777C>A , CM000667.1:g.112178777C>A	GRCh37
NC_000005.8:g.112206676C>A	NCBI36
NG_008481.4:g.155560C>A , LRG_130:g.155560C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7540C>A	ENSP00000473355.2:p.His2514Asn
ENST00000505350.2:c.*7492C>A	ENSP00000481752.1:n.*7492C>A
ENST00000507379.6:c.7432C>A	ENSP00000423224.2:p.His2478Asn
ENST00000509732.6:c.7486C>A	ENSP00000426541.2:p.His2496Asn
ENST00000512211.7:c.7486C>A	ENSP00000423828.3:p.His2496Asn
ENST00000257430.9:c.7486C>A MANE Select	ENSP00000257430.4:p.His2496Asn
ENST00000257430.8:c.7486C>A	ENSP00000257430.4:p.His2496Asn
ENST00000508376.6:c.7486C>A	ENSP00000427089.2:p.His2496Asn
ENST00000520401.1:c.231-13569C>A
NM_000038.5:c.7486C>A	NP_000029.2:p.His2496Asn
NM_001127510.2:c.7486C>A	NP_001120982.1:p.His2496Asn
NM_001127511.2:c.7432C>A	NP_001120983.2:p.His2478Asn
NM_001354895.1:c.7486C>A	NP_001341824.1:p.His2496Asn
NM_001354896.1:c.7540C>A	NP_001341825.1:p.His2514Asn
NM_001354897.1:c.7516C>A	NP_001341826.1:p.His2506Asn
NM_001354898.1:c.7411C>A	NP_001341827.1:p.His2471Asn
NM_001354899.1:c.7402C>A	NP_001341828.1:p.His2468Asn
NM_001354900.1:c.7363C>A	NP_001341829.1:p.His2455Asn
NM_001354901.1:c.7309C>A	NP_001341830.1:p.His2437Asn
NM_001354902.1:c.7213C>A	NP_001341831.1:p.His2405Asn
NM_001354903.1:c.7183C>A	NP_001341832.1:p.His2395Asn
NM_001354904.1:c.7108C>A	NP_001341833.1:p.His2370Asn
NM_001354905.1:c.7006C>A	NP_001341834.1:p.His2336Asn
NM_001354906.1:c.6637C>A	NP_001341835.1:p.His2213Asn
NM_000038.6:c.7486C>A MANE Select	NP_000029.2:p.His2496Asn
NM_001127510.3:c.7486C>A	NP_001120982.1:p.His2496Asn
NM_001127511.3:c.7432C>A	NP_001120983.2:p.His2478Asn
NM_001354895.2:c.7486C>A	NP_001341824.1:p.His2496Asn
NM_001354896.2:c.7540C>A	NP_001341825.1:p.His2514Asn
NM_001354897.2:c.7516C>A	NP_001341826.1:p.His2506Asn
NM_001354898.2:c.7411C>A	NP_001341827.1:p.His2471Asn
NM_001354899.2:c.7402C>A	NP_001341828.1:p.His2468Asn
NM_001354900.2:c.7363C>A	NP_001341829.1:p.His2455Asn
NM_001354901.2:c.7309C>A	NP_001341830.1:p.His2437Asn
NM_001354902.2:c.7213C>A	NP_001341831.1:p.His2405Asn
NM_001354903.2:c.7183C>A	NP_001341832.1:p.His2395Asn
NM_001354904.2:c.7108C>A	NP_001341833.1:p.His2370Asn
NM_001354905.2:c.7006C>A	NP_001341834.1:p.His2336Asn
NM_001354906.2:c.6637C>A	NP_001341835.1:p.His2213Asn