Canonical Allele Identifier: CA16032374

Gene: APC

Linked Data

• dbSNP Id: rs886059795
• MyVariant Identifiers: chr5:g.112176341T>A (hg19) ; chr5:g.112840644T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840644T>A , CM000667.2:g.112840644T>A	GRCh38
NC_000005.9:g.112176341T>A , CM000667.1:g.112176341T>A	GRCh37
NC_000005.8:g.112204240T>A	NCBI36
NG_008481.4:g.153124T>A , LRG_130:g.153124T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5104T>A	ENSP00000473355.2:p.Phe1702Ile
ENST00000505350.2:c.*5056T>A	ENSP00000481752.1:n.*5056T>A
ENST00000507379.6:c.4996T>A	ENSP00000423224.2:p.Phe1666Ile
ENST00000509732.6:c.5050T>A	ENSP00000426541.2:p.Phe1684Ile
ENST00000512211.7:c.5050T>A	ENSP00000423828.3:p.Phe1684Ile
ENST00000257430.9:c.5050T>A MANE Select	ENSP00000257430.4:p.Phe1684Ile
ENST00000257430.8:c.5050T>A	ENSP00000257430.4:p.Phe1684Ile
ENST00000508376.6:c.5050T>A	ENSP00000427089.2:p.Phe1684Ile
ENST00000508624.5:c.*4372T>A	ENSP00000424265.1:n.*4372T>A
ENST00000520401.1:c.230+11672T>A
NM_000038.5:c.5050T>A	NP_000029.2:p.Phe1684Ile
NM_001127510.2:c.5050T>A	NP_001120982.1:p.Phe1684Ile
NM_001127511.2:c.4996T>A	NP_001120983.2:p.Phe1666Ile
NM_001354895.1:c.5050T>A	NP_001341824.1:p.Phe1684Ile
NM_001354896.1:c.5104T>A	NP_001341825.1:p.Phe1702Ile
NM_001354897.1:c.5080T>A	NP_001341826.1:p.Phe1694Ile
NM_001354898.1:c.4975T>A	NP_001341827.1:p.Phe1659Ile
NM_001354899.1:c.4966T>A	NP_001341828.1:p.Phe1656Ile
NM_001354900.1:c.4927T>A	NP_001341829.1:p.Phe1643Ile
NM_001354901.1:c.4873T>A	NP_001341830.1:p.Phe1625Ile
NM_001354902.1:c.4777T>A	NP_001341831.1:p.Phe1593Ile
NM_001354903.1:c.4747T>A	NP_001341832.1:p.Phe1583Ile
NM_001354904.1:c.4672T>A	NP_001341833.1:p.Phe1558Ile
NM_001354905.1:c.4570T>A	NP_001341834.1:p.Phe1524Ile
NM_001354906.1:c.4201T>A	NP_001341835.1:p.Phe1401Ile
NM_000038.6:c.5050T>A MANE Select	NP_000029.2:p.Phe1684Ile
NM_001127510.3:c.5050T>A	NP_001120982.1:p.Phe1684Ile
NM_001127511.3:c.4996T>A	NP_001120983.2:p.Phe1666Ile
NM_001354895.2:c.5050T>A	NP_001341824.1:p.Phe1684Ile
NM_001354896.2:c.5104T>A	NP_001341825.1:p.Phe1702Ile
NM_001354897.2:c.5080T>A	NP_001341826.1:p.Phe1694Ile
NM_001354898.2:c.4975T>A	NP_001341827.1:p.Phe1659Ile
NM_001354899.2:c.4966T>A	NP_001341828.1:p.Phe1656Ile
NM_001354900.2:c.4927T>A	NP_001341829.1:p.Phe1643Ile
NM_001354901.2:c.4873T>A	NP_001341830.1:p.Phe1625Ile
NM_001354902.2:c.4777T>A	NP_001341831.1:p.Phe1593Ile
NM_001354903.2:c.4747T>A	NP_001341832.1:p.Phe1583Ile
NM_001354904.2:c.4672T>A	NP_001341833.1:p.Phe1558Ile
NM_001354905.2:c.4570T>A	NP_001341834.1:p.Phe1524Ile
NM_001354906.2:c.4201T>A	NP_001341835.1:p.Phe1401Ile