Canonical Allele Identifier: CA10582301

Gene: APC

Linked Data

• ClinVar Variation Id: 236581
• ClinVar RCV Id: RCV003335270
• dbSNP Id: rs878853432
• MyVariant Identifiers: chr5:g.112174086C>G (hg19) ; chr5:g.112838389C>G (hg38)
• PubMed: PMID:10083733 ; PMID:12010888 ; PMID:20223039 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838389C>G , CM000667.2:g.112838389C>G	GRCh38
NC_000005.9:g.112174086C>G , CM000667.1:g.112174086C>G	GRCh37
NC_000005.8:g.112201985C>G	NCBI36
NG_008481.4:g.150869C>G , LRG_130:g.150869C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2460C>G	ENSP00000484935.2:n.2460C>G
ENST00000504915.3:c.2849C>G	ENSP00000473355.2:p.Ser950Ter
ENST00000505350.2:c.*2801C>G	ENSP00000481752.1:n.*2801C>G
ENST00000507379.6:c.2741C>G	ENSP00000423224.2:p.Ser914Ter
ENST00000509732.6:c.2795C>G	ENSP00000426541.2:p.Ser932Ter
ENST00000512211.7:c.2795C>G	ENSP00000423828.3:p.Ser932Ter
ENST00000257430.9:c.2795C>G MANE Select	ENSP00000257430.4:p.Ser932Ter
ENST00000257430.8:c.2795C>G	ENSP00000257430.4:p.Ser932Ter
ENST00000502371.2:c.1148C>G
ENST00000507379.5:c.2741C>G	ENSP00000423224.1:p.Ser914Ter
ENST00000508376.6:c.2795C>G	ENSP00000427089.2:p.Ser932Ter
ENST00000508624.5:c.*2117C>G	ENSP00000424265.1:n.*2117C>G
ENST00000512211.6:c.2795C>G	ENSP00000423828.2:p.Ser932Ter
ENST00000520401.1:c.230+9417C>G
NM_000038.5:c.2795C>G	NP_000029.2:p.Ser932Ter
NM_001127510.2:c.2795C>G	NP_001120982.1:p.Ser932Ter
NM_001127511.2:c.2741C>G	NP_001120983.2:p.Ser914Ter
NM_001354895.1:c.2795C>G	NP_001341824.1:p.Ser932Ter
NM_001354896.1:c.2849C>G	NP_001341825.1:p.Ser950Ter
NM_001354897.1:c.2825C>G	NP_001341826.1:p.Ser942Ter
NM_001354898.1:c.2720C>G	NP_001341827.1:p.Ser907Ter
NM_001354899.1:c.2711C>G	NP_001341828.1:p.Ser904Ter
NM_001354900.1:c.2672C>G	NP_001341829.1:p.Ser891Ter
NM_001354901.1:c.2618C>G	NP_001341830.1:p.Ser873Ter
NM_001354902.1:c.2522C>G	NP_001341831.1:p.Ser841Ter
NM_001354903.1:c.2492C>G	NP_001341832.1:p.Ser831Ter
NM_001354904.1:c.2417C>G	NP_001341833.1:p.Ser806Ter
NM_001354905.1:c.2315C>G	NP_001341834.1:p.Ser772Ter
NM_001354906.1:c.1946C>G	NP_001341835.1:p.Ser649Ter
NM_000038.6:c.2795C>G MANE Select	NP_000029.2:p.Ser932Ter
NM_001127510.3:c.2795C>G	NP_001120982.1:p.Ser932Ter
NM_001127511.3:c.2741C>G	NP_001120983.2:p.Ser914Ter
NM_001354895.2:c.2795C>G	NP_001341824.1:p.Ser932Ter
NM_001354896.2:c.2849C>G	NP_001341825.1:p.Ser950Ter
NM_001354897.2:c.2825C>G	NP_001341826.1:p.Ser942Ter
NM_001354898.2:c.2720C>G	NP_001341827.1:p.Ser907Ter
NM_001354899.2:c.2711C>G	NP_001341828.1:p.Ser904Ter
NM_001354900.2:c.2672C>G	NP_001341829.1:p.Ser891Ter
NM_001354901.2:c.2618C>G	NP_001341830.1:p.Ser873Ter
NM_001354902.2:c.2522C>G	NP_001341831.1:p.Ser841Ter
NM_001354903.2:c.2492C>G	NP_001341832.1:p.Ser831Ter
NM_001354904.2:c.2417C>G	NP_001341833.1:p.Ser806Ter
NM_001354905.2:c.2315C>G	NP_001341834.1:p.Ser772Ter
NM_001354906.2:c.1946C>G	NP_001341835.1:p.Ser649Ter