Canonical Allele Identifier: CA279807

Gene: APC

Linked Data

• ClinVar Variation Id: 217995
• ClinVar RCV Id: RCV000202262 ; RCV000563395 ; RCV003335218
• dbSNP Id: rs863225365
• MyVariant Identifiers: chr5:g.112111436T>C (hg19) ; chr5:g.112775739T>C (hg38)
• PubMed: PMID:20924072

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112775739T>C , CM000667.2:g.112775739T>C	GRCh38
NC_000005.9:g.112111436T>C , CM000667.1:g.112111436T>C	GRCh37
NC_000005.8:g.112139335T>C	NCBI36
NG_008481.4:g.88219T>C , LRG_130:g.88219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.531+2T>C	ENSP00000484935.2:n.531+2T>C
ENST00000504915.3:c.531+2T>C	ENSP00000473355.2:n.531+2T>C
ENST00000505084.2:n.587+2T>C
ENST00000505350.2:c.*537+2T>C	ENSP00000481752.1:n.*537+2T>C
ENST00000507379.6:c.561+2T>C	ENSP00000423224.2:n.561+2T>C
ENST00000509732.6:c.531+2T>C	ENSP00000426541.2:n.531+2T>C
ENST00000512211.7:c.531+2T>C	ENSP00000423828.3:n.531+2T>C
ENST00000257430.9:c.531+2T>C MANE Select	ENSP00000257430.4:n.531+2T>C
ENST00000257430.8:c.531+2T>C	ENSP00000257430.4:n.531+2T>C
ENST00000507379.5:c.561+2T>C	ENSP00000423224.1:n.561+2T>C
ENST00000508376.6:c.531+2T>C	ENSP00000427089.2:n.531+2T>C
ENST00000508624.5:c.531+2T>C	ENSP00000424265.1:n.531+2T>C
ENST00000512211.6:c.531+2T>C	ENSP00000423828.2:n.531+2T>C
NM_000038.5:c.531+2T>C	NP_000029.2:n.531+2T>C
NM_001127510.2:c.531+2T>C	NP_001120982.1:n.531+2T>C
NM_001127511.2:c.561+2T>C	NP_001120983.2:n.561+2T>C
NM_001354895.1:c.531+2T>C	NP_001341824.1:n.531+2T>C
NM_001354896.1:c.531+2T>C	NP_001341825.1:n.531+2T>C
NM_001354897.1:c.561+2T>C	NP_001341826.1:n.561+2T>C
NM_001354898.1:c.456+2T>C	NP_001341827.1:n.456+2T>C
NM_001354899.1:c.531+2T>C	NP_001341828.1:n.531+2T>C
NM_001354900.1:c.354+2T>C	NP_001341829.1:n.354+2T>C
NM_001354901.1:c.354+2T>C	NP_001341830.1:n.354+2T>C
NM_001354902.1:c.561+2T>C	NP_001341831.1:n.561+2T>C
NM_001354903.1:c.531+2T>C	NP_001341832.1:n.531+2T>C
NM_001354904.1:c.456+2T>C	NP_001341833.1:n.456+2T>C
NM_001354905.1:c.354+2T>C	NP_001341834.1:n.354+2T>C
NM_001354906.1:c.-505+2T>C	NP_001341835.1:n.-505+2T>C
NM_000038.6:c.531+2T>C MANE Select	NP_000029.2:n.531+2T>C
NM_001127510.3:c.531+2T>C	NP_001120982.1:n.531+2T>C
NM_001127511.3:c.561+2T>C	NP_001120983.2:n.561+2T>C
NM_001354895.2:c.531+2T>C	NP_001341824.1:n.531+2T>C
NM_001354896.2:c.531+2T>C	NP_001341825.1:n.531+2T>C
NM_001354897.2:c.561+2T>C	NP_001341826.1:n.561+2T>C
NM_001354898.2:c.456+2T>C	NP_001341827.1:n.456+2T>C
NM_001354899.2:c.531+2T>C	NP_001341828.1:n.531+2T>C
NM_001354900.2:c.354+2T>C	NP_001341829.1:n.354+2T>C
NM_001354901.2:c.354+2T>C	NP_001341830.1:n.354+2T>C
NM_001354902.2:c.561+2T>C	NP_001341831.1:n.561+2T>C
NM_001354903.2:c.531+2T>C	NP_001341832.1:n.531+2T>C
NM_001354904.2:c.456+2T>C	NP_001341833.1:n.456+2T>C
NM_001354905.2:c.354+2T>C	NP_001341834.1:n.354+2T>C
NM_001354906.2:c.-505+2T>C	NP_001341835.1:n.-505+2T>C