Canonical Allele Identifier: CA16025651

Gene: APC

Linked Data

• ClinVar Variation Id: 469727
• ClinVar RCV Id: RCV003537032
• dbSNP Id: rs1554083862
• MyVariant Identifiers: chr5:g.112173274T>A (hg19) ; chr5:g.112837577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837577T>A , CM000667.2:g.112837577T>A	GRCh38
NC_000005.9:g.112173274T>A , CM000667.1:g.112173274T>A	GRCh37
NC_000005.8:g.112201173T>A	NCBI36
NG_008481.4:g.150057T>A , LRG_130:g.150057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1648T>A	ENSP00000484935.2:n.1648T>A
ENST00000504915.3:c.2037T>A	ENSP00000473355.2:p.Cys679Ter
ENST00000505350.2:c.*1989T>A	ENSP00000481752.1:n.*1989T>A
ENST00000507379.6:c.1929T>A	ENSP00000423224.2:p.Cys643Ter
ENST00000509732.6:c.1983T>A	ENSP00000426541.2:p.Cys661Ter
ENST00000512211.7:c.1983T>A	ENSP00000423828.3:p.Cys661Ter
ENST00000257430.9:c.1983T>A MANE Select	ENSP00000257430.4:p.Cys661Ter
ENST00000257430.8:c.1983T>A	ENSP00000257430.4:p.Cys661Ter
ENST00000502371.2:c.336T>A
ENST00000504915.2:c.672T>A	ENSP00000473355.1:p.Cys224Ter
ENST00000507379.5:c.1929T>A	ENSP00000423224.1:p.Cys643Ter
ENST00000508376.6:c.1983T>A	ENSP00000427089.2:p.Cys661Ter
ENST00000508624.5:c.*1305T>A	ENSP00000424265.1:n.*1305T>A
ENST00000512211.6:c.1983T>A	ENSP00000423828.2:p.Cys661Ter
ENST00000520401.1:c.230+8605T>A
NM_000038.5:c.1983T>A	NP_000029.2:p.Cys661Ter
NM_001127510.2:c.1983T>A	NP_001120982.1:p.Cys661Ter
NM_001127511.2:c.1929T>A	NP_001120983.2:p.Cys643Ter
NM_001354895.1:c.1983T>A	NP_001341824.1:p.Cys661Ter
NM_001354896.1:c.2037T>A	NP_001341825.1:p.Cys679Ter
NM_001354897.1:c.2013T>A	NP_001341826.1:p.Cys671Ter
NM_001354898.1:c.1908T>A	NP_001341827.1:p.Cys636Ter
NM_001354899.1:c.1899T>A	NP_001341828.1:p.Cys633Ter
NM_001354900.1:c.1860T>A	NP_001341829.1:p.Cys620Ter
NM_001354901.1:c.1806T>A	NP_001341830.1:p.Cys602Ter
NM_001354902.1:c.1710T>A	NP_001341831.1:p.Cys570Ter
NM_001354903.1:c.1680T>A	NP_001341832.1:p.Cys560Ter
NM_001354904.1:c.1605T>A	NP_001341833.1:p.Cys535Ter
NM_001354905.1:c.1503T>A	NP_001341834.1:p.Cys501Ter
NM_001354906.1:c.1134T>A	NP_001341835.1:p.Cys378Ter
NM_000038.6:c.1983T>A MANE Select	NP_000029.2:p.Cys661Ter
NM_001127510.3:c.1983T>A	NP_001120982.1:p.Cys661Ter
NM_001127511.3:c.1929T>A	NP_001120983.2:p.Cys643Ter
NM_001354895.2:c.1983T>A	NP_001341824.1:p.Cys661Ter
NM_001354896.2:c.2037T>A	NP_001341825.1:p.Cys679Ter
NM_001354897.2:c.2013T>A	NP_001341826.1:p.Cys671Ter
NM_001354898.2:c.1908T>A	NP_001341827.1:p.Cys636Ter
NM_001354899.2:c.1899T>A	NP_001341828.1:p.Cys633Ter
NM_001354900.2:c.1860T>A	NP_001341829.1:p.Cys620Ter
NM_001354901.2:c.1806T>A	NP_001341830.1:p.Cys602Ter
NM_001354902.2:c.1710T>A	NP_001341831.1:p.Cys570Ter
NM_001354903.2:c.1680T>A	NP_001341832.1:p.Cys560Ter
NM_001354904.2:c.1605T>A	NP_001341833.1:p.Cys535Ter
NM_001354905.2:c.1503T>A	NP_001341834.1:p.Cys501Ter
NM_001354906.2:c.1134T>A	NP_001341835.1:p.Cys378Ter