Canonical Allele Identifier: CA16038209

Gene: APC

Linked Data

• dbSNP Id: rs2149993446
• MyVariant Identifiers: chr5:g.112179060A>T (hg19) ; chr5:g.112843363A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843363A>T , CM000667.2:g.112843363A>T	GRCh38
NC_000005.9:g.112179060A>T , CM000667.1:g.112179060A>T	GRCh37
NC_000005.8:g.112206959A>T	NCBI36
NG_008481.4:g.155843A>T , LRG_130:g.155843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7823A>T	ENSP00000473355.2:p.Lys2608Ile
ENST00000505350.2:c.*7775A>T	ENSP00000481752.1:n.*7775A>T
ENST00000507379.6:c.7715A>T	ENSP00000423224.2:p.Lys2572Ile
ENST00000509732.6:c.7769A>T	ENSP00000426541.2:p.Lys2590Ile
ENST00000512211.7:c.7769A>T	ENSP00000423828.3:p.Lys2590Ile
ENST00000257430.9:c.7769A>T MANE Select	ENSP00000257430.4:p.Lys2590Ile
ENST00000257430.8:c.7769A>T	ENSP00000257430.4:p.Lys2590Ile
ENST00000508376.6:c.7769A>T	ENSP00000427089.2:p.Lys2590Ile
ENST00000520401.1:c.231-13286A>T
NM_000038.5:c.7769A>T	NP_000029.2:p.Lys2590Ile
NM_001127510.2:c.7769A>T	NP_001120982.1:p.Lys2590Ile
NM_001127511.2:c.7715A>T	NP_001120983.2:p.Lys2572Ile
NM_001354895.1:c.7769A>T	NP_001341824.1:p.Lys2590Ile
NM_001354896.1:c.7823A>T	NP_001341825.1:p.Lys2608Ile
NM_001354897.1:c.7799A>T	NP_001341826.1:p.Lys2600Ile
NM_001354898.1:c.7694A>T	NP_001341827.1:p.Lys2565Ile
NM_001354899.1:c.7685A>T	NP_001341828.1:p.Lys2562Ile
NM_001354900.1:c.7646A>T	NP_001341829.1:p.Lys2549Ile
NM_001354901.1:c.7592A>T	NP_001341830.1:p.Lys2531Ile
NM_001354902.1:c.7496A>T	NP_001341831.1:p.Lys2499Ile
NM_001354903.1:c.7466A>T	NP_001341832.1:p.Lys2489Ile
NM_001354904.1:c.7391A>T	NP_001341833.1:p.Lys2464Ile
NM_001354905.1:c.7289A>T	NP_001341834.1:p.Lys2430Ile
NM_001354906.1:c.6920A>T	NP_001341835.1:p.Lys2307Ile
NM_000038.6:c.7769A>T MANE Select	NP_000029.2:p.Lys2590Ile
NM_001127510.3:c.7769A>T	NP_001120982.1:p.Lys2590Ile
NM_001127511.3:c.7715A>T	NP_001120983.2:p.Lys2572Ile
NM_001354895.2:c.7769A>T	NP_001341824.1:p.Lys2590Ile
NM_001354896.2:c.7823A>T	NP_001341825.1:p.Lys2608Ile
NM_001354897.2:c.7799A>T	NP_001341826.1:p.Lys2600Ile
NM_001354898.2:c.7694A>T	NP_001341827.1:p.Lys2565Ile
NM_001354899.2:c.7685A>T	NP_001341828.1:p.Lys2562Ile
NM_001354900.2:c.7646A>T	NP_001341829.1:p.Lys2549Ile
NM_001354901.2:c.7592A>T	NP_001341830.1:p.Lys2531Ile
NM_001354902.2:c.7496A>T	NP_001341831.1:p.Lys2499Ile
NM_001354903.2:c.7466A>T	NP_001341832.1:p.Lys2489Ile
NM_001354904.2:c.7391A>T	NP_001341833.1:p.Lys2464Ile
NM_001354905.2:c.7289A>T	NP_001341834.1:p.Lys2430Ile
NM_001354906.2:c.6920A>T	NP_001341835.1:p.Lys2307Ile