Canonical Allele Identifier: CA10578333

Gene: APC

Linked Data

• ClinVar Variation Id: 233010
• ClinVar RCV Id: RCV000213199 ; RCV002229299 ; RCV003765431
• dbSNP Id: rs876660130
• COSMIC: COSM288184
• MyVariant Identifiers: chr5:g.112173290C>T (hg19) ; chr5:g.112837593C>T (hg38)
• PubMed: PMID:16883523 ; PMID:17230660 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837593C>T , CM000667.2:g.112837593C>T	GRCh38
NC_000005.9:g.112173290C>T , CM000667.1:g.112173290C>T	GRCh37
NC_000005.8:g.112201189C>T	NCBI36
NG_008481.4:g.150073C>T , LRG_130:g.150073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1664C>T	ENSP00000484935.2:n.1664C>T
ENST00000504915.3:c.2053C>T	ENSP00000473355.2:p.Gln685Ter
ENST00000505350.2:c.*2005C>T	ENSP00000481752.1:n.*2005C>T
ENST00000507379.6:c.1945C>T	ENSP00000423224.2:p.Gln649Ter
ENST00000509732.6:c.1999C>T	ENSP00000426541.2:p.Gln667Ter
ENST00000512211.7:c.1999C>T	ENSP00000423828.3:p.Gln667Ter
ENST00000257430.9:c.1999C>T MANE Select	ENSP00000257430.4:p.Gln667Ter
ENST00000257430.8:c.1999C>T	ENSP00000257430.4:p.Gln667Ter
ENST00000502371.2:c.352C>T
ENST00000504915.2:c.688C>T	ENSP00000473355.1:p.Gln230Ter
ENST00000507379.5:c.1945C>T	ENSP00000423224.1:p.Gln649Ter
ENST00000508376.6:c.1999C>T	ENSP00000427089.2:p.Gln667Ter
ENST00000508624.5:c.*1321C>T	ENSP00000424265.1:n.*1321C>T
ENST00000512211.6:c.1999C>T	ENSP00000423828.2:p.Gln667Ter
ENST00000520401.1:c.230+8621C>T
NM_000038.5:c.1999C>T	NP_000029.2:p.Gln667Ter
NM_001127510.2:c.1999C>T	NP_001120982.1:p.Gln667Ter
NM_001127511.2:c.1945C>T	NP_001120983.2:p.Gln649Ter
NM_001354895.1:c.1999C>T	NP_001341824.1:p.Gln667Ter
NM_001354896.1:c.2053C>T	NP_001341825.1:p.Gln685Ter
NM_001354897.1:c.2029C>T	NP_001341826.1:p.Gln677Ter
NM_001354898.1:c.1924C>T	NP_001341827.1:p.Gln642Ter
NM_001354899.1:c.1915C>T	NP_001341828.1:p.Gln639Ter
NM_001354900.1:c.1876C>T	NP_001341829.1:p.Gln626Ter
NM_001354901.1:c.1822C>T	NP_001341830.1:p.Gln608Ter
NM_001354902.1:c.1726C>T	NP_001341831.1:p.Gln576Ter
NM_001354903.1:c.1696C>T	NP_001341832.1:p.Gln566Ter
NM_001354904.1:c.1621C>T	NP_001341833.1:p.Gln541Ter
NM_001354905.1:c.1519C>T	NP_001341834.1:p.Gln507Ter
NM_001354906.1:c.1150C>T	NP_001341835.1:p.Gln384Ter
NM_000038.6:c.1999C>T MANE Select	NP_000029.2:p.Gln667Ter
NM_001127510.3:c.1999C>T	NP_001120982.1:p.Gln667Ter
NM_001127511.3:c.1945C>T	NP_001120983.2:p.Gln649Ter
NM_001354895.2:c.1999C>T	NP_001341824.1:p.Gln667Ter
NM_001354896.2:c.2053C>T	NP_001341825.1:p.Gln685Ter
NM_001354897.2:c.2029C>T	NP_001341826.1:p.Gln677Ter
NM_001354898.2:c.1924C>T	NP_001341827.1:p.Gln642Ter
NM_001354899.2:c.1915C>T	NP_001341828.1:p.Gln639Ter
NM_001354900.2:c.1876C>T	NP_001341829.1:p.Gln626Ter
NM_001354901.2:c.1822C>T	NP_001341830.1:p.Gln608Ter
NM_001354902.2:c.1726C>T	NP_001341831.1:p.Gln576Ter
NM_001354903.2:c.1696C>T	NP_001341832.1:p.Gln566Ter
NM_001354904.2:c.1621C>T	NP_001341833.1:p.Gln541Ter
NM_001354905.2:c.1519C>T	NP_001341834.1:p.Gln507Ter
NM_001354906.2:c.1150C>T	NP_001341835.1:p.Gln384Ter