Canonical Allele Identifier: CA16024888
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 537498
ClinVar RCV Id: RCV000646404

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828868G>A , CM000667.2:g.112828868G>A GRCh38
NC_000005.9:g.112164565G>A , CM000667.1:g.112164565G>A GRCh37
NC_000005.8:g.112192464G>A NCBI36
NG_008481.4:g.141348G>A , LRG_130:g.141348G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1639G>A MANE Select ENSP00000257430.4:p.Val547Ile
ENST00000257430.8:c.1639G>A ENSP00000257430.4:p.Val547Ile
ENST00000502371.2:n.97-6083G>A
ENST00000504915.2:n.328G>A ENSP00000473355.1:p.Val110Ile
ENST00000505084.1:n.126G>A
ENST00000507379.5:c.1585G>A ENSP00000423224.1:p.Val529Ile
ENST00000508376.6:c.1639G>A ENSP00000427089.2:p.Val547Ile
ENST00000508624.5:c.*961G>A ENSP00000424265.1:n.*961G>A
ENST00000512211.6:c.1639G>A ENSP00000423828.2:p.Val547Ile
ENST00000520401.1:n.126G>A
NM_000038.5:c.1639G>A NP_000029.2:p.Val547Ile
NM_001127510.2:c.1639G>A NP_001120982.1:p.Val547Ile
NM_001127511.2:c.1585G>A NP_001120983.2:p.Val529Ile
NM_001354895.1:c.1639G>A NP_001341824.1:p.Val547Ile
NM_001354896.1:c.1693G>A NP_001341825.1:p.Val565Ile
NM_001354897.1:c.1669G>A NP_001341826.1:p.Val557Ile
NM_001354898.1:c.1564G>A NP_001341827.1:p.Val522Ile
NM_001354899.1:c.1555G>A NP_001341828.1:p.Val519Ile
NM_001354900.1:c.1516G>A NP_001341829.1:p.Val506Ile
NM_001354901.1:c.1462G>A NP_001341830.1:p.Val488Ile
NM_001354902.1:c.1366G>A NP_001341831.1:p.Val456Ile
NM_001354903.1:c.1336G>A NP_001341832.1:p.Val446Ile
NM_001354904.1:c.1261G>A NP_001341833.1:p.Val421Ile
NM_001354905.1:c.1159G>A NP_001341834.1:p.Val387Ile
NM_001354906.1:c.790G>A NP_001341835.1:p.Val264Ile
NM_000038.6:c.1639G>A MANE Select NP_000029.2:p.Val547Ile
NM_001127510.3:c.1639G>A NP_001120982.1:p.Val547Ile
NM_001127511.3:c.1585G>A NP_001120983.2:p.Val529Ile
NM_001354895.2:c.1639G>A NP_001341824.1:p.Val547Ile
NM_001354896.2:c.1693G>A NP_001341825.1:p.Val565Ile
NM_001354897.2:c.1669G>A NP_001341826.1:p.Val557Ile
NM_001354898.2:c.1564G>A NP_001341827.1:p.Val522Ile
NM_001354899.2:c.1555G>A NP_001341828.1:p.Val519Ile
NM_001354900.2:c.1516G>A NP_001341829.1:p.Val506Ile
NM_001354901.2:c.1462G>A NP_001341830.1:p.Val488Ile
NM_001354902.2:c.1366G>A NP_001341831.1:p.Val456Ile
NM_001354903.2:c.1336G>A NP_001341832.1:p.Val446Ile
NM_001354904.2:c.1261G>A NP_001341833.1:p.Val421Ile
NM_001354905.2:c.1159G>A NP_001341834.1:p.Val387Ile
NM_001354906.2:c.790G>A NP_001341835.1:p.Val264Ile