Canonical Allele Identifier: CA446211343
Gene: APC HGNC NCBI

Linked Data

dbSNP Id: rs1422980338
MyVariant Identifiers: chr5:g.112179535A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843838A>T , CM000667.2:g.112843838A>T GRCh38
NC_000005.9:g.112179535A>T , CM000667.1:g.112179535A>T GRCh37
NC_000005.8:g.112207434A>T NCBI36
NG_008481.4:g.156318A>T , LRG_130:g.156318A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.8298A>T ENSP00000473355.2:p.Val2766=
ENST00000505350.2:c.*8250A>T ENSP00000481752.1:n.*8250A>T
ENST00000507379.6:c.8190A>T ENSP00000423224.2:p.Val2730=
ENST00000509732.6:c.8244A>T ENSP00000426541.2:p.Val2748=
ENST00000512211.7:c.8244A>T ENSP00000423828.3:p.Val2748=
ENST00000257430.9:c.8244A>T MANE Select ENSP00000257430.4:p.Val2748=
ENST00000257430.8:c.8244A>T ENSP00000257430.4:p.Val2748=
ENST00000508376.6:c.8244A>T ENSP00000427089.2:p.Val2748=
ENST00000520401.1:c.231-12811A>T
NM_000038.5:c.8244A>T NP_000029.2:p.Val2748=
NM_001127510.2:c.8244A>T NP_001120982.1:p.Val2748=
NM_001127511.2:c.8190A>T NP_001120983.2:p.Val2730=
NM_001354895.1:c.8244A>T NP_001341824.1:p.Val2748=
NM_001354896.1:c.8298A>T NP_001341825.1:p.Val2766=
NM_001354897.1:c.8274A>T NP_001341826.1:p.Val2758=
NM_001354898.1:c.8169A>T NP_001341827.1:p.Val2723=
NM_001354899.1:c.8160A>T NP_001341828.1:p.Val2720=
NM_001354900.1:c.8121A>T NP_001341829.1:p.Val2707=
NM_001354901.1:c.8067A>T NP_001341830.1:p.Val2689=
NM_001354902.1:c.7971A>T NP_001341831.1:p.Val2657=
NM_001354903.1:c.7941A>T NP_001341832.1:p.Val2647=
NM_001354904.1:c.7866A>T NP_001341833.1:p.Val2622=
NM_001354905.1:c.7764A>T NP_001341834.1:p.Val2588=
NM_001354906.1:c.7395A>T NP_001341835.1:p.Val2465=
NM_000038.6:c.8244A>T MANE Select NP_000029.2:p.Val2748=
NM_001127510.3:c.8244A>T NP_001120982.1:p.Val2748=
NM_001127511.3:c.8190A>T NP_001120983.2:p.Val2730=
NM_001354895.2:c.8244A>T NP_001341824.1:p.Val2748=
NM_001354896.2:c.8298A>T NP_001341825.1:p.Val2766=
NM_001354897.2:c.8274A>T NP_001341826.1:p.Val2758=
NM_001354898.2:c.8169A>T NP_001341827.1:p.Val2723=
NM_001354899.2:c.8160A>T NP_001341828.1:p.Val2720=
NM_001354900.2:c.8121A>T NP_001341829.1:p.Val2707=
NM_001354901.2:c.8067A>T NP_001341830.1:p.Val2689=
NM_001354902.2:c.7971A>T NP_001341831.1:p.Val2657=
NM_001354903.2:c.7941A>T NP_001341832.1:p.Val2647=
NM_001354904.2:c.7866A>T NP_001341833.1:p.Val2622=
NM_001354905.2:c.7764A>T NP_001341834.1:p.Val2588=
NM_001354906.2:c.7395A>T NP_001341835.1:p.Val2465=