Canonical Allele Identifier: CA446209977
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 537615
ClinVar RCV Id: RCV003538553
dbSNP Id: rs1554087680

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842332T>A , CM000667.2:g.112842332T>A GRCh38
NC_000005.9:g.112178029T>A , CM000667.1:g.112178029T>A GRCh37
NC_000005.8:g.112205928T>A NCBI36
NG_008481.4:g.154812T>A , LRG_130:g.154812T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000504915.3:c.6792T>A ENSP00000473355.2:p.Val2264=
ENST00000505350.2:c.*6744T>A ENSP00000481752.1:n.*6744T>A
ENST00000507379.6:c.6684T>A ENSP00000423224.2:p.Val2228=
ENST00000509732.6:c.6738T>A ENSP00000426541.2:p.Val2246=
ENST00000512211.7:c.6738T>A ENSP00000423828.3:p.Val2246=
ENST00000257430.9:c.6738T>A MANE Select ENSP00000257430.4:p.Val2246=
ENST00000257430.8:c.6738T>A ENSP00000257430.4:p.Val2246=
ENST00000508376.6:c.6738T>A ENSP00000427089.2:p.Val2246=
ENST00000508624.5:c.*6060T>A ENSP00000424265.1:n.*6060T>A
ENST00000520401.1:c.230+13360T>A
NM_000038.5:c.6738T>A NP_000029.2:p.Val2246=
NM_001127510.2:c.6738T>A NP_001120982.1:p.Val2246=
NM_001127511.2:c.6684T>A NP_001120983.2:p.Val2228=
NM_001354895.1:c.6738T>A NP_001341824.1:p.Val2246=
NM_001354896.1:c.6792T>A NP_001341825.1:p.Val2264=
NM_001354897.1:c.6768T>A NP_001341826.1:p.Val2256=
NM_001354898.1:c.6663T>A NP_001341827.1:p.Val2221=
NM_001354899.1:c.6654T>A NP_001341828.1:p.Val2218=
NM_001354900.1:c.6615T>A NP_001341829.1:p.Val2205=
NM_001354901.1:c.6561T>A NP_001341830.1:p.Val2187=
NM_001354902.1:c.6465T>A NP_001341831.1:p.Val2155=
NM_001354903.1:c.6435T>A NP_001341832.1:p.Val2145=
NM_001354904.1:c.6360T>A NP_001341833.1:p.Val2120=
NM_001354905.1:c.6258T>A NP_001341834.1:p.Val2086=
NM_001354906.1:c.5889T>A NP_001341835.1:p.Val1963=
NM_000038.6:c.6738T>A MANE Select NP_000029.2:p.Val2246=
NM_001127510.3:c.6738T>A NP_001120982.1:p.Val2246=
NM_001127511.3:c.6684T>A NP_001120983.2:p.Val2228=
NM_001354895.2:c.6738T>A NP_001341824.1:p.Val2246=
NM_001354896.2:c.6792T>A NP_001341825.1:p.Val2264=
NM_001354897.2:c.6768T>A NP_001341826.1:p.Val2256=
NM_001354898.2:c.6663T>A NP_001341827.1:p.Val2221=
NM_001354899.2:c.6654T>A NP_001341828.1:p.Val2218=
NM_001354900.2:c.6615T>A NP_001341829.1:p.Val2205=
NM_001354901.2:c.6561T>A NP_001341830.1:p.Val2187=
NM_001354902.2:c.6465T>A NP_001341831.1:p.Val2155=
NM_001354903.2:c.6435T>A NP_001341832.1:p.Val2145=
NM_001354904.2:c.6360T>A NP_001341833.1:p.Val2120=
NM_001354905.2:c.6258T>A NP_001341834.1:p.Val2086=
NM_001354906.2:c.5889T>A NP_001341835.1:p.Val1963=