Canonical Allele Identifier: CA007811

Gene: APC

Linked Data

• ClinVar Variation Id: 186058
• ClinVar RCV Id: RCV000165582 ; RCV000202153 ; RCV000500049 ; RCV003137694 ; RCV003337240
• dbSNP Id: rs137854575
• COSMIC: COSM19066
• MyVariant Identifiers: chr5:g.112174096C>G (hg19) ; chr5:g.112838399C>G (hg38)
• PubMed: PMID:8990002 ; PMID:16088911 ; PMID:18433509 ; PMID:20223039 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838399C>G , CM000667.2:g.112838399C>G	GRCh38
NC_000005.9:g.112174096C>G , CM000667.1:g.112174096C>G	GRCh37
NC_000005.8:g.112201995C>G	NCBI36
NG_008481.4:g.150879C>G , LRG_130:g.150879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2470C>G	ENSP00000484935.2:n.2470C>G
ENST00000504915.3:c.2859C>G	ENSP00000473355.2:p.Tyr953Ter
ENST00000505350.2:c.*2811C>G	ENSP00000481752.1:n.*2811C>G
ENST00000507379.6:c.2751C>G	ENSP00000423224.2:p.Tyr917Ter
ENST00000509732.6:c.2805C>G	ENSP00000426541.2:p.Tyr935Ter
ENST00000512211.7:c.2805C>G	ENSP00000423828.3:p.Tyr935Ter
ENST00000257430.9:c.2805C>G MANE Select	ENSP00000257430.4:p.Tyr935Ter
ENST00000257430.8:c.2805C>G	ENSP00000257430.4:p.Tyr935Ter
ENST00000502371.2:c.1158C>G
ENST00000507379.5:c.2751C>G	ENSP00000423224.1:p.Tyr917Ter
ENST00000508376.6:c.2805C>G	ENSP00000427089.2:p.Tyr935Ter
ENST00000508624.5:c.*2127C>G	ENSP00000424265.1:n.*2127C>G
ENST00000512211.6:c.2805C>G	ENSP00000423828.2:p.Tyr935Ter
ENST00000520401.1:c.230+9427C>G
NM_000038.5:c.2805C>G	NP_000029.2:p.Tyr935Ter
NM_001127510.2:c.2805C>G	NP_001120982.1:p.Tyr935Ter
NM_001127511.2:c.2751C>G	NP_001120983.2:p.Tyr917Ter
NM_001354895.1:c.2805C>G	NP_001341824.1:p.Tyr935Ter
NM_001354896.1:c.2859C>G	NP_001341825.1:p.Tyr953Ter
NM_001354897.1:c.2835C>G	NP_001341826.1:p.Tyr945Ter
NM_001354898.1:c.2730C>G	NP_001341827.1:p.Tyr910Ter
NM_001354899.1:c.2721C>G	NP_001341828.1:p.Tyr907Ter
NM_001354900.1:c.2682C>G	NP_001341829.1:p.Tyr894Ter
NM_001354901.1:c.2628C>G	NP_001341830.1:p.Tyr876Ter
NM_001354902.1:c.2532C>G	NP_001341831.1:p.Tyr844Ter
NM_001354903.1:c.2502C>G	NP_001341832.1:p.Tyr834Ter
NM_001354904.1:c.2427C>G	NP_001341833.1:p.Tyr809Ter
NM_001354905.1:c.2325C>G	NP_001341834.1:p.Tyr775Ter
NM_001354906.1:c.1956C>G	NP_001341835.1:p.Tyr652Ter
NM_000038.6:c.2805C>G MANE Select	NP_000029.2:p.Tyr935Ter
NM_001127510.3:c.2805C>G	NP_001120982.1:p.Tyr935Ter
NM_001127511.3:c.2751C>G	NP_001120983.2:p.Tyr917Ter
NM_001354895.2:c.2805C>G	NP_001341824.1:p.Tyr935Ter
NM_001354896.2:c.2859C>G	NP_001341825.1:p.Tyr953Ter
NM_001354897.2:c.2835C>G	NP_001341826.1:p.Tyr945Ter
NM_001354898.2:c.2730C>G	NP_001341827.1:p.Tyr910Ter
NM_001354899.2:c.2721C>G	NP_001341828.1:p.Tyr907Ter
NM_001354900.2:c.2682C>G	NP_001341829.1:p.Tyr894Ter
NM_001354901.2:c.2628C>G	NP_001341830.1:p.Tyr876Ter
NM_001354902.2:c.2532C>G	NP_001341831.1:p.Tyr844Ter
NM_001354903.2:c.2502C>G	NP_001341832.1:p.Tyr834Ter
NM_001354904.2:c.2427C>G	NP_001341833.1:p.Tyr809Ter
NM_001354905.2:c.2325C>G	NP_001341834.1:p.Tyr775Ter
NM_001354906.2:c.1956C>G	NP_001341835.1:p.Tyr652Ter