Canonical Allele Identifier: CA279753

Gene: APC

Linked Data

• ClinVar Variation Id: 217972
• ClinVar RCV Id: RCV000202149 ; RCV000490989 ; RCV002298521 ; RCV003337247 ; RCV003982949
• dbSNP Id: rs863225347
• COSMIC: COSM290422
• MyVariant Identifiers: chr5:g.112175101T>A (hg19) ; chr5:g.112839404T>A (hg38)
• PubMed: PMID:10982189 ; PMID:23159591

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839404T>A , CM000667.2:g.112839404T>A	GRCh38
NC_000005.9:g.112175101T>A , CM000667.1:g.112175101T>A	GRCh37
NC_000005.8:g.112203000T>A	NCBI36
NG_008481.4:g.151884T>A , LRG_130:g.151884T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3475T>A	ENSP00000484935.2:n.3475T>A
ENST00000504915.3:c.3864T>A	ENSP00000473355.2:p.Cys1288Ter
ENST00000505350.2:c.*3816T>A	ENSP00000481752.1:n.*3816T>A
ENST00000507379.6:c.3756T>A	ENSP00000423224.2:p.Cys1252Ter
ENST00000509732.6:c.3810T>A	ENSP00000426541.2:p.Cys1270Ter
ENST00000512211.7:c.3810T>A	ENSP00000423828.3:p.Cys1270Ter
ENST00000257430.9:c.3810T>A MANE Select	ENSP00000257430.4:p.Cys1270Ter
ENST00000257430.8:c.3810T>A	ENSP00000257430.4:p.Cys1270Ter
ENST00000502371.2:c.2163T>A
ENST00000508376.6:c.3810T>A	ENSP00000427089.2:p.Cys1270Ter
ENST00000508624.5:c.*3132T>A	ENSP00000424265.1:n.*3132T>A
ENST00000512211.6:c.3810T>A	ENSP00000423828.2:p.Cys1270Ter
ENST00000520401.1:c.230+10432T>A
NM_000038.5:c.3810T>A	NP_000029.2:p.Cys1270Ter
NM_001127510.2:c.3810T>A	NP_001120982.1:p.Cys1270Ter
NM_001127511.2:c.3756T>A	NP_001120983.2:p.Cys1252Ter
NM_001354895.1:c.3810T>A	NP_001341824.1:p.Cys1270Ter
NM_001354896.1:c.3864T>A	NP_001341825.1:p.Cys1288Ter
NM_001354897.1:c.3840T>A	NP_001341826.1:p.Cys1280Ter
NM_001354898.1:c.3735T>A	NP_001341827.1:p.Cys1245Ter
NM_001354899.1:c.3726T>A	NP_001341828.1:p.Cys1242Ter
NM_001354900.1:c.3687T>A	NP_001341829.1:p.Cys1229Ter
NM_001354901.1:c.3633T>A	NP_001341830.1:p.Cys1211Ter
NM_001354902.1:c.3537T>A	NP_001341831.1:p.Cys1179Ter
NM_001354903.1:c.3507T>A	NP_001341832.1:p.Cys1169Ter
NM_001354904.1:c.3432T>A	NP_001341833.1:p.Cys1144Ter
NM_001354905.1:c.3330T>A	NP_001341834.1:p.Cys1110Ter
NM_001354906.1:c.2961T>A	NP_001341835.1:p.Cys987Ter
NM_000038.6:c.3810T>A MANE Select	NP_000029.2:p.Cys1270Ter
NM_001127510.3:c.3810T>A	NP_001120982.1:p.Cys1270Ter
NM_001127511.3:c.3756T>A	NP_001120983.2:p.Cys1252Ter
NM_001354895.2:c.3810T>A	NP_001341824.1:p.Cys1270Ter
NM_001354896.2:c.3864T>A	NP_001341825.1:p.Cys1288Ter
NM_001354897.2:c.3840T>A	NP_001341826.1:p.Cys1280Ter
NM_001354898.2:c.3735T>A	NP_001341827.1:p.Cys1245Ter
NM_001354899.2:c.3726T>A	NP_001341828.1:p.Cys1242Ter
NM_001354900.2:c.3687T>A	NP_001341829.1:p.Cys1229Ter
NM_001354901.2:c.3633T>A	NP_001341830.1:p.Cys1211Ter
NM_001354902.2:c.3537T>A	NP_001341831.1:p.Cys1179Ter
NM_001354903.2:c.3507T>A	NP_001341832.1:p.Cys1169Ter
NM_001354904.2:c.3432T>A	NP_001341833.1:p.Cys1144Ter
NM_001354905.2:c.3330T>A	NP_001341834.1:p.Cys1110Ter
NM_001354906.2:c.2961T>A	NP_001341835.1:p.Cys987Ter