Canonical Allele Identifier: CA16037884

Gene: APC

Linked Data

• ClinVar Variation Id: 2856757
• ClinVar RCV Id: RCV003743138
• dbSNP Id: rs587778033
• MyVariant Identifiers: chr5:g.112178912A>T (hg19) ; chr5:g.112843215A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843215A>T , CM000667.2:g.112843215A>T	GRCh38
NC_000005.9:g.112178912A>T , CM000667.1:g.112178912A>T	GRCh37
NC_000005.8:g.112206811A>T	NCBI36
NG_008481.4:g.155695A>T , LRG_130:g.155695A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7675A>T	ENSP00000473355.2:p.Ile2559Phe
ENST00000505350.2:c.*7627A>T	ENSP00000481752.1:n.*7627A>T
ENST00000507379.6:c.7567A>T	ENSP00000423224.2:p.Ile2523Phe
ENST00000509732.6:c.7621A>T	ENSP00000426541.2:p.Ile2541Phe
ENST00000512211.7:c.7621A>T	ENSP00000423828.3:p.Ile2541Phe
ENST00000257430.9:c.7621A>T MANE Select	ENSP00000257430.4:p.Ile2541Phe
ENST00000257430.8:c.7621A>T	ENSP00000257430.4:p.Ile2541Phe
ENST00000508376.6:c.7621A>T	ENSP00000427089.2:p.Ile2541Phe
ENST00000520401.1:c.231-13434A>T
NM_000038.5:c.7621A>T	NP_000029.2:p.Ile2541Phe
NM_001127510.2:c.7621A>T	NP_001120982.1:p.Ile2541Phe
NM_001127511.2:c.7567A>T	NP_001120983.2:p.Ile2523Phe
NM_001354895.1:c.7621A>T	NP_001341824.1:p.Ile2541Phe
NM_001354896.1:c.7675A>T	NP_001341825.1:p.Ile2559Phe
NM_001354897.1:c.7651A>T	NP_001341826.1:p.Ile2551Phe
NM_001354898.1:c.7546A>T	NP_001341827.1:p.Ile2516Phe
NM_001354899.1:c.7537A>T	NP_001341828.1:p.Ile2513Phe
NM_001354900.1:c.7498A>T	NP_001341829.1:p.Ile2500Phe
NM_001354901.1:c.7444A>T	NP_001341830.1:p.Ile2482Phe
NM_001354902.1:c.7348A>T	NP_001341831.1:p.Ile2450Phe
NM_001354903.1:c.7318A>T	NP_001341832.1:p.Ile2440Phe
NM_001354904.1:c.7243A>T	NP_001341833.1:p.Ile2415Phe
NM_001354905.1:c.7141A>T	NP_001341834.1:p.Ile2381Phe
NM_001354906.1:c.6772A>T	NP_001341835.1:p.Ile2258Phe
NM_000038.6:c.7621A>T MANE Select	NP_000029.2:p.Ile2541Phe
NM_001127510.3:c.7621A>T	NP_001120982.1:p.Ile2541Phe
NM_001127511.3:c.7567A>T	NP_001120983.2:p.Ile2523Phe
NM_001354895.2:c.7621A>T	NP_001341824.1:p.Ile2541Phe
NM_001354896.2:c.7675A>T	NP_001341825.1:p.Ile2559Phe
NM_001354897.2:c.7651A>T	NP_001341826.1:p.Ile2551Phe
NM_001354898.2:c.7546A>T	NP_001341827.1:p.Ile2516Phe
NM_001354899.2:c.7537A>T	NP_001341828.1:p.Ile2513Phe
NM_001354900.2:c.7498A>T	NP_001341829.1:p.Ile2500Phe
NM_001354901.2:c.7444A>T	NP_001341830.1:p.Ile2482Phe
NM_001354902.2:c.7348A>T	NP_001341831.1:p.Ile2450Phe
NM_001354903.2:c.7318A>T	NP_001341832.1:p.Ile2440Phe
NM_001354904.2:c.7243A>T	NP_001341833.1:p.Ile2415Phe
NM_001354905.2:c.7141A>T	NP_001341834.1:p.Ile2381Phe
NM_001354906.2:c.6772A>T	NP_001341835.1:p.Ile2258Phe