Canonical Allele Identifier: CA446211328
Gene: APC HGNC NCBI

Linked Data

dbSNP Id: rs1554088993
MyVariant Identifiers: chr5:g.112179529C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843832C>A , CM000667.2:g.112843832C>A GRCh38
NC_000005.9:g.112179529C>A , CM000667.1:g.112179529C>A GRCh37
NC_000005.8:g.112207428C>A NCBI36
NG_008481.4:g.156312C>A , LRG_130:g.156312C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.8292C>A ENSP00000473355.2:p.Val2764=
ENST00000505350.2:c.*8244C>A ENSP00000481752.1:n.*8244C>A
ENST00000507379.6:c.8184C>A ENSP00000423224.2:p.Val2728=
ENST00000509732.6:c.8238C>A ENSP00000426541.2:p.Val2746=
ENST00000512211.7:c.8238C>A ENSP00000423828.3:p.Val2746=
ENST00000257430.9:c.8238C>A MANE Select ENSP00000257430.4:p.Val2746=
ENST00000257430.8:c.8238C>A ENSP00000257430.4:p.Val2746=
ENST00000508376.6:c.8238C>A ENSP00000427089.2:p.Val2746=
ENST00000520401.1:c.231-12817C>A
NM_000038.5:c.8238C>A NP_000029.2:p.Val2746=
NM_001127510.2:c.8238C>A NP_001120982.1:p.Val2746=
NM_001127511.2:c.8184C>A NP_001120983.2:p.Val2728=
NM_001354895.1:c.8238C>A NP_001341824.1:p.Val2746=
NM_001354896.1:c.8292C>A NP_001341825.1:p.Val2764=
NM_001354897.1:c.8268C>A NP_001341826.1:p.Val2756=
NM_001354898.1:c.8163C>A NP_001341827.1:p.Val2721=
NM_001354899.1:c.8154C>A NP_001341828.1:p.Val2718=
NM_001354900.1:c.8115C>A NP_001341829.1:p.Val2705=
NM_001354901.1:c.8061C>A NP_001341830.1:p.Val2687=
NM_001354902.1:c.7965C>A NP_001341831.1:p.Val2655=
NM_001354903.1:c.7935C>A NP_001341832.1:p.Val2645=
NM_001354904.1:c.7860C>A NP_001341833.1:p.Val2620=
NM_001354905.1:c.7758C>A NP_001341834.1:p.Val2586=
NM_001354906.1:c.7389C>A NP_001341835.1:p.Val2463=
NM_000038.6:c.8238C>A MANE Select NP_000029.2:p.Val2746=
NM_001127510.3:c.8238C>A NP_001120982.1:p.Val2746=
NM_001127511.3:c.8184C>A NP_001120983.2:p.Val2728=
NM_001354895.2:c.8238C>A NP_001341824.1:p.Val2746=
NM_001354896.2:c.8292C>A NP_001341825.1:p.Val2764=
NM_001354897.2:c.8268C>A NP_001341826.1:p.Val2756=
NM_001354898.2:c.8163C>A NP_001341827.1:p.Val2721=
NM_001354899.2:c.8154C>A NP_001341828.1:p.Val2718=
NM_001354900.2:c.8115C>A NP_001341829.1:p.Val2705=
NM_001354901.2:c.8061C>A NP_001341830.1:p.Val2687=
NM_001354902.2:c.7965C>A NP_001341831.1:p.Val2655=
NM_001354903.2:c.7935C>A NP_001341832.1:p.Val2645=
NM_001354904.2:c.7860C>A NP_001341833.1:p.Val2620=
NM_001354905.2:c.7758C>A NP_001341834.1:p.Val2586=
NM_001354906.2:c.7389C>A NP_001341835.1:p.Val2463=