Canonical Allele Identifier: CA16611674

Gene: APC

Linked Data

• ClinVar Variation Id: 411451
• ClinVar RCV Id: RCV002339181 ; RCV002230536
• dbSNP Id: rs1060503313
• gnomAD v4: 5-112840409-G-A
• MyVariant Identifiers: chr5:g.112176106G>A (hg19) ; chr5:g.112840409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840409G>A , CM000667.2:g.112840409G>A	GRCh38
NC_000005.9:g.112176106G>A , CM000667.1:g.112176106G>A	GRCh37
NC_000005.8:g.112204005G>A	NCBI36
NG_008481.4:g.152889G>A , LRG_130:g.152889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4869G>A	ENSP00000473355.2:p.Val1623=
ENST00000505350.2:c.*4821G>A	ENSP00000481752.1:n.*4821G>A
ENST00000507379.6:c.4761G>A	ENSP00000423224.2:p.Val1587=
ENST00000509732.6:c.4815G>A	ENSP00000426541.2:p.Val1605=
ENST00000512211.7:c.4815G>A	ENSP00000423828.3:p.Val1605=
ENST00000257430.9:c.4815G>A MANE Select	ENSP00000257430.4:p.Val1605=
ENST00000257430.8:c.4815G>A	ENSP00000257430.4:p.Val1605=
ENST00000508376.6:c.4815G>A	ENSP00000427089.2:p.Val1605=
ENST00000508624.5:c.*4137G>A	ENSP00000424265.1:n.*4137G>A
ENST00000520401.1:c.230+11437G>A
NM_000038.5:c.4815G>A	NP_000029.2:p.Val1605=
NM_001127510.2:c.4815G>A	NP_001120982.1:p.Val1605=
NM_001127511.2:c.4761G>A	NP_001120983.2:p.Val1587=
NM_001354895.1:c.4815G>A	NP_001341824.1:p.Val1605=
NM_001354896.1:c.4869G>A	NP_001341825.1:p.Val1623=
NM_001354897.1:c.4845G>A	NP_001341826.1:p.Val1615=
NM_001354898.1:c.4740G>A	NP_001341827.1:p.Val1580=
NM_001354899.1:c.4731G>A	NP_001341828.1:p.Val1577=
NM_001354900.1:c.4692G>A	NP_001341829.1:p.Val1564=
NM_001354901.1:c.4638G>A	NP_001341830.1:p.Val1546=
NM_001354902.1:c.4542G>A	NP_001341831.1:p.Val1514=
NM_001354903.1:c.4512G>A	NP_001341832.1:p.Val1504=
NM_001354904.1:c.4437G>A	NP_001341833.1:p.Val1479=
NM_001354905.1:c.4335G>A	NP_001341834.1:p.Val1445=
NM_001354906.1:c.3966G>A	NP_001341835.1:p.Val1322=
NM_000038.6:c.4815G>A MANE Select	NP_000029.2:p.Val1605=
NM_001127510.3:c.4815G>A	NP_001120982.1:p.Val1605=
NM_001127511.3:c.4761G>A	NP_001120983.2:p.Val1587=
NM_001354895.2:c.4815G>A	NP_001341824.1:p.Val1605=
NM_001354896.2:c.4869G>A	NP_001341825.1:p.Val1623=
NM_001354897.2:c.4845G>A	NP_001341826.1:p.Val1615=
NM_001354898.2:c.4740G>A	NP_001341827.1:p.Val1580=
NM_001354899.2:c.4731G>A	NP_001341828.1:p.Val1577=
NM_001354900.2:c.4692G>A	NP_001341829.1:p.Val1564=
NM_001354901.2:c.4638G>A	NP_001341830.1:p.Val1546=
NM_001354902.2:c.4542G>A	NP_001341831.1:p.Val1514=
NM_001354903.2:c.4512G>A	NP_001341832.1:p.Val1504=
NM_001354904.2:c.4437G>A	NP_001341833.1:p.Val1479=
NM_001354905.2:c.4335G>A	NP_001341834.1:p.Val1445=
NM_001354906.2:c.3966G>A	NP_001341835.1:p.Val1322=