Canonical Allele Identifier: CA10584253

Gene: APC

Linked Data

• ClinVar Variation Id: 246402
• ClinVar RCV Id: RCV000235893 ; RCV002338775 ; RCV003535664 ; RCV003998926
• dbSNP Id: rs587781935
• MyVariant Identifiers: chr5:g.112176026A>T (hg19) ; chr5:g.112840329A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840329A>T , CM000667.2:g.112840329A>T	GRCh38
NC_000005.9:g.112176026A>T , CM000667.1:g.112176026A>T	GRCh37
NC_000005.8:g.112203925A>T	NCBI36
NG_008481.4:g.152809A>T , LRG_130:g.152809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4789A>T	ENSP00000473355.2:p.Ile1597Phe
ENST00000505350.2:c.*4741A>T	ENSP00000481752.1:n.*4741A>T
ENST00000507379.6:c.4681A>T	ENSP00000423224.2:p.Ile1561Phe
ENST00000509732.6:c.4735A>T	ENSP00000426541.2:p.Ile1579Phe
ENST00000512211.7:c.4735A>T	ENSP00000423828.3:p.Ile1579Phe
ENST00000257430.9:c.4735A>T MANE Select	ENSP00000257430.4:p.Ile1579Phe
ENST00000257430.8:c.4735A>T	ENSP00000257430.4:p.Ile1579Phe
ENST00000508376.6:c.4735A>T	ENSP00000427089.2:p.Ile1579Phe
ENST00000508624.5:c.*4057A>T	ENSP00000424265.1:n.*4057A>T
ENST00000520401.1:c.230+11357A>T
NM_000038.5:c.4735A>T	NP_000029.2:p.Ile1579Phe
NM_001127510.2:c.4735A>T	NP_001120982.1:p.Ile1579Phe
NM_001127511.2:c.4681A>T	NP_001120983.2:p.Ile1561Phe
NM_001354895.1:c.4735A>T	NP_001341824.1:p.Ile1579Phe
NM_001354896.1:c.4789A>T	NP_001341825.1:p.Ile1597Phe
NM_001354897.1:c.4765A>T	NP_001341826.1:p.Ile1589Phe
NM_001354898.1:c.4660A>T	NP_001341827.1:p.Ile1554Phe
NM_001354899.1:c.4651A>T	NP_001341828.1:p.Ile1551Phe
NM_001354900.1:c.4612A>T	NP_001341829.1:p.Ile1538Phe
NM_001354901.1:c.4558A>T	NP_001341830.1:p.Ile1520Phe
NM_001354902.1:c.4462A>T	NP_001341831.1:p.Ile1488Phe
NM_001354903.1:c.4432A>T	NP_001341832.1:p.Ile1478Phe
NM_001354904.1:c.4357A>T	NP_001341833.1:p.Ile1453Phe
NM_001354905.1:c.4255A>T	NP_001341834.1:p.Ile1419Phe
NM_001354906.1:c.3886A>T	NP_001341835.1:p.Ile1296Phe
NM_000038.6:c.4735A>T MANE Select	NP_000029.2:p.Ile1579Phe
NM_001127510.3:c.4735A>T	NP_001120982.1:p.Ile1579Phe
NM_001127511.3:c.4681A>T	NP_001120983.2:p.Ile1561Phe
NM_001354895.2:c.4735A>T	NP_001341824.1:p.Ile1579Phe
NM_001354896.2:c.4789A>T	NP_001341825.1:p.Ile1597Phe
NM_001354897.2:c.4765A>T	NP_001341826.1:p.Ile1589Phe
NM_001354898.2:c.4660A>T	NP_001341827.1:p.Ile1554Phe
NM_001354899.2:c.4651A>T	NP_001341828.1:p.Ile1551Phe
NM_001354900.2:c.4612A>T	NP_001341829.1:p.Ile1538Phe
NM_001354901.2:c.4558A>T	NP_001341830.1:p.Ile1520Phe
NM_001354902.2:c.4462A>T	NP_001341831.1:p.Ile1488Phe
NM_001354903.2:c.4432A>T	NP_001341832.1:p.Ile1478Phe
NM_001354904.2:c.4357A>T	NP_001341833.1:p.Ile1453Phe
NM_001354905.2:c.4255A>T	NP_001341834.1:p.Ile1419Phe
NM_001354906.2:c.3886A>T	NP_001341835.1:p.Ile1296Phe