Canonical Allele Identifier: CA16037264
Gene: APC HGNC NCBI

Linked Data

dbSNP Id: rs1221895599

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842910G>T , CM000667.2:g.112842910G>T GRCh38
NC_000005.9:g.112178607G>T , CM000667.1:g.112178607G>T GRCh37
NC_000005.8:g.112206506G>T NCBI36
NG_008481.4:g.155390G>T , LRG_130:g.155390G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7370G>T ENSP00000473355.2:p.Arg2457Leu
ENST00000505350.2:c.*7322G>T ENSP00000481752.1:n.*7322G>T
ENST00000507379.6:c.7262G>T ENSP00000423224.2:p.Arg2421Leu
ENST00000509732.6:c.7316G>T ENSP00000426541.2:p.Arg2439Leu
ENST00000512211.7:c.7316G>T ENSP00000423828.3:p.Arg2439Leu
ENST00000257430.9:c.7316G>T MANE Select ENSP00000257430.4:p.Arg2439Leu
ENST00000257430.8:c.7316G>T ENSP00000257430.4:p.Arg2439Leu
ENST00000508376.6:c.7316G>T ENSP00000427089.2:p.Arg2439Leu
ENST00000520401.1:c.231-13739G>T
NM_000038.5:c.7316G>T NP_000029.2:p.Arg2439Leu
NM_001127510.2:c.7316G>T NP_001120982.1:p.Arg2439Leu
NM_001127511.2:c.7262G>T NP_001120983.2:p.Arg2421Leu
NM_001354895.1:c.7316G>T NP_001341824.1:p.Arg2439Leu
NM_001354896.1:c.7370G>T NP_001341825.1:p.Arg2457Leu
NM_001354897.1:c.7346G>T NP_001341826.1:p.Arg2449Leu
NM_001354898.1:c.7241G>T NP_001341827.1:p.Arg2414Leu
NM_001354899.1:c.7232G>T NP_001341828.1:p.Arg2411Leu
NM_001354900.1:c.7193G>T NP_001341829.1:p.Arg2398Leu
NM_001354901.1:c.7139G>T NP_001341830.1:p.Arg2380Leu
NM_001354902.1:c.7043G>T NP_001341831.1:p.Arg2348Leu
NM_001354903.1:c.7013G>T NP_001341832.1:p.Arg2338Leu
NM_001354904.1:c.6938G>T NP_001341833.1:p.Arg2313Leu
NM_001354905.1:c.6836G>T NP_001341834.1:p.Arg2279Leu
NM_001354906.1:c.6467G>T NP_001341835.1:p.Arg2156Leu
NM_000038.6:c.7316G>T MANE Select NP_000029.2:p.Arg2439Leu
NM_001127510.3:c.7316G>T NP_001120982.1:p.Arg2439Leu
NM_001127511.3:c.7262G>T NP_001120983.2:p.Arg2421Leu
NM_001354895.2:c.7316G>T NP_001341824.1:p.Arg2439Leu
NM_001354896.2:c.7370G>T NP_001341825.1:p.Arg2457Leu
NM_001354897.2:c.7346G>T NP_001341826.1:p.Arg2449Leu
NM_001354898.2:c.7241G>T NP_001341827.1:p.Arg2414Leu
NM_001354899.2:c.7232G>T NP_001341828.1:p.Arg2411Leu
NM_001354900.2:c.7193G>T NP_001341829.1:p.Arg2398Leu
NM_001354901.2:c.7139G>T NP_001341830.1:p.Arg2380Leu
NM_001354902.2:c.7043G>T NP_001341831.1:p.Arg2348Leu
NM_001354903.2:c.7013G>T NP_001341832.1:p.Arg2338Leu
NM_001354904.2:c.6938G>T NP_001341833.1:p.Arg2313Leu
NM_001354905.2:c.6836G>T NP_001341834.1:p.Arg2279Leu
NM_001354906.2:c.6467G>T NP_001341835.1:p.Arg2156Leu