Canonical Allele Identifier: CA010770

Gene: APC

Linked Data

• ClinVar Variation Id: 42247
• ClinVar RCV Id: RCV000035080 ; RCV000074242 ; RCV000162375 ; RCV000270059
• dbSNP Id: rs465899
• ExAC: 5:112177171 G / A
• gnomAD v2: 5-112177171-G-A
• gnomAD v3: 5-112841474-G-A
• gnomAD v4: 5-112841474-G-A
• MyVariant Identifiers: chr5:g.112177171G>A (hg19) ; chr5:g.112841474G>A (hg38)
• PubMed: PMID:14616385

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841474G>A , CM000667.2:g.112841474G>A	GRCh38
NC_000005.9:g.112177171G>A , CM000667.1:g.112177171G>A	GRCh37
NC_000005.8:g.112205070G>A	NCBI36
NG_008481.4:g.153954G>A , LRG_130:g.153954G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5934G>A	ENSP00000473355.2:p.Pro1978=
ENST00000505350.2:c.*5886G>A	ENSP00000481752.1:n.*5886G>A
ENST00000507379.6:c.5826G>A	ENSP00000423224.2:p.Pro1942=
ENST00000509732.6:c.5880G>A	ENSP00000426541.2:p.Pro1960=
ENST00000512211.7:c.5880G>A	ENSP00000423828.3:p.Pro1960=
ENST00000257430.9:c.5880G>A MANE Select	ENSP00000257430.4:p.Pro1960=
ENST00000257430.8:c.5880G>A	ENSP00000257430.4:p.Pro1960=
ENST00000508376.6:c.5880G>A	ENSP00000427089.2:p.Pro1960=
ENST00000508624.5:c.*5202G>A	ENSP00000424265.1:n.*5202G>A
ENST00000520401.1:c.230+12502G>A
NM_000038.5:c.5880G>A	NP_000029.2:p.Pro1960=
NM_001127510.2:c.5880G>A	NP_001120982.1:p.Pro1960=
NM_001127511.2:c.5826G>A	NP_001120983.2:p.Pro1942=
NM_001354895.1:c.5880G>A	NP_001341824.1:p.Pro1960=
NM_001354896.1:c.5934G>A	NP_001341825.1:p.Pro1978=
NM_001354897.1:c.5910G>A	NP_001341826.1:p.Pro1970=
NM_001354898.1:c.5805G>A	NP_001341827.1:p.Pro1935=
NM_001354899.1:c.5796G>A	NP_001341828.1:p.Pro1932=
NM_001354900.1:c.5757G>A	NP_001341829.1:p.Pro1919=
NM_001354901.1:c.5703G>A	NP_001341830.1:p.Pro1901=
NM_001354902.1:c.5607G>A	NP_001341831.1:p.Pro1869=
NM_001354903.1:c.5577G>A	NP_001341832.1:p.Pro1859=
NM_001354904.1:c.5502G>A	NP_001341833.1:p.Pro1834=
NM_001354905.1:c.5400G>A	NP_001341834.1:p.Pro1800=
NM_001354906.1:c.5031G>A	NP_001341835.1:p.Pro1677=
NM_000038.6:c.5880G>A MANE Select	NP_000029.2:p.Pro1960=
NM_001127510.3:c.5880G>A	NP_001120982.1:p.Pro1960=
NM_001127511.3:c.5826G>A	NP_001120983.2:p.Pro1942=
NM_001354895.2:c.5880G>A	NP_001341824.1:p.Pro1960=
NM_001354896.2:c.5934G>A	NP_001341825.1:p.Pro1978=
NM_001354897.2:c.5910G>A	NP_001341826.1:p.Pro1970=
NM_001354898.2:c.5805G>A	NP_001341827.1:p.Pro1935=
NM_001354899.2:c.5796G>A	NP_001341828.1:p.Pro1932=
NM_001354900.2:c.5757G>A	NP_001341829.1:p.Pro1919=
NM_001354901.2:c.5703G>A	NP_001341830.1:p.Pro1901=
NM_001354902.2:c.5607G>A	NP_001341831.1:p.Pro1869=
NM_001354903.2:c.5577G>A	NP_001341832.1:p.Pro1859=
NM_001354904.2:c.5502G>A	NP_001341833.1:p.Pro1834=
NM_001354905.2:c.5400G>A	NP_001341834.1:p.Pro1800=
NM_001354906.2:c.5031G>A	NP_001341835.1:p.Pro1677=