Canonical Allele Identifier: CA16025590

Gene: APC

Linked Data

• ClinVar Variation Id: 1478972
• ClinVar RCV Id: RCV002579516
• dbSNP Id: rs752539905
• COSMIC: COSM4166230
• MyVariant Identifiers: chr5:g.112170859A>C (hg19) ; chr5:g.112835162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835162A>C , CM000667.2:g.112835162A>C	GRCh38
NC_000005.9:g.112170859A>C , CM000667.1:g.112170859A>C	GRCh37
NC_000005.8:g.112198758A>C	NCBI36
NG_008481.4:g.147642A>C , LRG_130:g.147642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1620A>C	ENSP00000484935.2:n.1620A>C
ENST00000504915.3:c.2009A>C	ENSP00000473355.2:p.His670Pro
ENST00000505350.2:c.*1961A>C	ENSP00000481752.1:n.*1961A>C
ENST00000507379.6:c.1901A>C	ENSP00000423224.2:p.His634Pro
ENST00000509732.6:c.1955A>C	ENSP00000426541.2:p.His652Pro
ENST00000512211.7:c.1955A>C	ENSP00000423828.3:p.His652Pro
ENST00000257430.9:c.1955A>C MANE Select	ENSP00000257430.4:p.His652Pro
ENST00000257430.8:c.1955A>C	ENSP00000257430.4:p.His652Pro
ENST00000502371.2:c.308A>C
ENST00000504915.2:c.644A>C	ENSP00000473355.1:p.His215Pro
ENST00000507379.5:c.1901A>C	ENSP00000423224.1:p.His634Pro
ENST00000508376.6:c.1955A>C	ENSP00000427089.2:p.His652Pro
ENST00000508624.5:c.*1277A>C	ENSP00000424265.1:n.*1277A>C
ENST00000512211.6:c.1955A>C	ENSP00000423828.2:p.His652Pro
ENST00000520401.1:c.230+6190A>C
NM_000038.5:c.1955A>C	NP_000029.2:p.His652Pro
NM_001127510.2:c.1955A>C	NP_001120982.1:p.His652Pro
NM_001127511.2:c.1901A>C	NP_001120983.2:p.His634Pro
NM_001354895.1:c.1955A>C	NP_001341824.1:p.His652Pro
NM_001354896.1:c.2009A>C	NP_001341825.1:p.His670Pro
NM_001354897.1:c.1985A>C	NP_001341826.1:p.His662Pro
NM_001354898.1:c.1880A>C	NP_001341827.1:p.His627Pro
NM_001354899.1:c.1871A>C	NP_001341828.1:p.His624Pro
NM_001354900.1:c.1832A>C	NP_001341829.1:p.His611Pro
NM_001354901.1:c.1778A>C	NP_001341830.1:p.His593Pro
NM_001354902.1:c.1682A>C	NP_001341831.1:p.His561Pro
NM_001354903.1:c.1652A>C	NP_001341832.1:p.His551Pro
NM_001354904.1:c.1577A>C	NP_001341833.1:p.His526Pro
NM_001354905.1:c.1475A>C	NP_001341834.1:p.His492Pro
NM_001354906.1:c.1106A>C	NP_001341835.1:p.His369Pro
NM_000038.6:c.1955A>C MANE Select	NP_000029.2:p.His652Pro
NM_001127510.3:c.1955A>C	NP_001120982.1:p.His652Pro
NM_001127511.3:c.1901A>C	NP_001120983.2:p.His634Pro
NM_001354895.2:c.1955A>C	NP_001341824.1:p.His652Pro
NM_001354896.2:c.2009A>C	NP_001341825.1:p.His670Pro
NM_001354897.2:c.1985A>C	NP_001341826.1:p.His662Pro
NM_001354898.2:c.1880A>C	NP_001341827.1:p.His627Pro
NM_001354899.2:c.1871A>C	NP_001341828.1:p.His624Pro
NM_001354900.2:c.1832A>C	NP_001341829.1:p.His611Pro
NM_001354901.2:c.1778A>C	NP_001341830.1:p.His593Pro
NM_001354902.2:c.1682A>C	NP_001341831.1:p.His561Pro
NM_001354903.2:c.1652A>C	NP_001341832.1:p.His551Pro
NM_001354904.2:c.1577A>C	NP_001341833.1:p.His526Pro
NM_001354905.2:c.1475A>C	NP_001341834.1:p.His492Pro
NM_001354906.2:c.1106A>C	NP_001341835.1:p.His369Pro