Canonical Allele Identifier: CA16034333

Gene: APC

Linked Data

• ClinVar Variation Id: 629114
• ClinVar RCV Id: RCV000773803
• dbSNP Id: rs1561603929
• MyVariant Identifiers: chr5:g.112177232A>G (hg19) ; chr5:g.112841535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841535A>G , CM000667.2:g.112841535A>G	GRCh38
NC_000005.9:g.112177232A>G , CM000667.1:g.112177232A>G	GRCh37
NC_000005.8:g.112205131A>G	NCBI36
NG_008481.4:g.154015A>G , LRG_130:g.154015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5995A>G	ENSP00000473355.2:p.Asn1999Asp
ENST00000505350.2:c.*5947A>G	ENSP00000481752.1:n.*5947A>G
ENST00000507379.6:c.5887A>G	ENSP00000423224.2:p.Asn1963Asp
ENST00000509732.6:c.5941A>G	ENSP00000426541.2:p.Asn1981Asp
ENST00000512211.7:c.5941A>G	ENSP00000423828.3:p.Asn1981Asp
ENST00000257430.9:c.5941A>G MANE Select	ENSP00000257430.4:p.Asn1981Asp
ENST00000257430.8:c.5941A>G	ENSP00000257430.4:p.Asn1981Asp
ENST00000508376.6:c.5941A>G	ENSP00000427089.2:p.Asn1981Asp
ENST00000508624.5:c.*5263A>G	ENSP00000424265.1:n.*5263A>G
ENST00000520401.1:c.230+12563A>G
NM_000038.5:c.5941A>G	NP_000029.2:p.Asn1981Asp
NM_001127510.2:c.5941A>G	NP_001120982.1:p.Asn1981Asp
NM_001127511.2:c.5887A>G	NP_001120983.2:p.Asn1963Asp
NM_001354895.1:c.5941A>G	NP_001341824.1:p.Asn1981Asp
NM_001354896.1:c.5995A>G	NP_001341825.1:p.Asn1999Asp
NM_001354897.1:c.5971A>G	NP_001341826.1:p.Asn1991Asp
NM_001354898.1:c.5866A>G	NP_001341827.1:p.Asn1956Asp
NM_001354899.1:c.5857A>G	NP_001341828.1:p.Asn1953Asp
NM_001354900.1:c.5818A>G	NP_001341829.1:p.Asn1940Asp
NM_001354901.1:c.5764A>G	NP_001341830.1:p.Asn1922Asp
NM_001354902.1:c.5668A>G	NP_001341831.1:p.Asn1890Asp
NM_001354903.1:c.5638A>G	NP_001341832.1:p.Asn1880Asp
NM_001354904.1:c.5563A>G	NP_001341833.1:p.Asn1855Asp
NM_001354905.1:c.5461A>G	NP_001341834.1:p.Asn1821Asp
NM_001354906.1:c.5092A>G	NP_001341835.1:p.Asn1698Asp
NM_000038.6:c.5941A>G MANE Select	NP_000029.2:p.Asn1981Asp
NM_001127510.3:c.5941A>G	NP_001120982.1:p.Asn1981Asp
NM_001127511.3:c.5887A>G	NP_001120983.2:p.Asn1963Asp
NM_001354895.2:c.5941A>G	NP_001341824.1:p.Asn1981Asp
NM_001354896.2:c.5995A>G	NP_001341825.1:p.Asn1999Asp
NM_001354897.2:c.5971A>G	NP_001341826.1:p.Asn1991Asp
NM_001354898.2:c.5866A>G	NP_001341827.1:p.Asn1956Asp
NM_001354899.2:c.5857A>G	NP_001341828.1:p.Asn1953Asp
NM_001354900.2:c.5818A>G	NP_001341829.1:p.Asn1940Asp
NM_001354901.2:c.5764A>G	NP_001341830.1:p.Asn1922Asp
NM_001354902.2:c.5668A>G	NP_001341831.1:p.Asn1890Asp
NM_001354903.2:c.5638A>G	NP_001341832.1:p.Asn1880Asp
NM_001354904.2:c.5563A>G	NP_001341833.1:p.Asn1855Asp
NM_001354905.2:c.5461A>G	NP_001341834.1:p.Asn1821Asp
NM_001354906.2:c.5092A>G	NP_001341835.1:p.Asn1698Asp