Canonical Allele Identifier: CA446208066

Gene: APC

Linked Data

• ClinVar Variation Id: 1641148
• ClinVar RCV Id: RCV002337362 ; RCV003773940
• dbSNP Id: rs1580653022
• MyVariant Identifiers: chr5:g.112176110A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840413A>C , CM000667.2:g.112840413A>C	GRCh38
NC_000005.9:g.112176110A>C , CM000667.1:g.112176110A>C	GRCh37
NC_000005.8:g.112204009A>C	NCBI36
NG_008481.4:g.152893A>C , LRG_130:g.152893A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.4873A>C	ENSP00000473355.2:p.Arg1625=
ENST00000505350.2:c.*4825A>C	ENSP00000481752.1:n.*4825A>C
ENST00000507379.6:c.4765A>C	ENSP00000423224.2:p.Arg1589=
ENST00000509732.6:c.4819A>C	ENSP00000426541.2:p.Arg1607=
ENST00000512211.7:c.4819A>C	ENSP00000423828.3:p.Arg1607=
ENST00000257430.9:c.4819A>C MANE Select	ENSP00000257430.4:p.Arg1607=
ENST00000257430.8:c.4819A>C	ENSP00000257430.4:p.Arg1607=
ENST00000508376.6:c.4819A>C	ENSP00000427089.2:p.Arg1607=
ENST00000508624.5:c.*4141A>C	ENSP00000424265.1:n.*4141A>C
ENST00000520401.1:c.230+11441A>C
NM_000038.5:c.4819A>C	NP_000029.2:p.Arg1607=
NM_001127510.2:c.4819A>C	NP_001120982.1:p.Arg1607=
NM_001127511.2:c.4765A>C	NP_001120983.2:p.Arg1589=
NM_001354895.1:c.4819A>C	NP_001341824.1:p.Arg1607=
NM_001354896.1:c.4873A>C	NP_001341825.1:p.Arg1625=
NM_001354897.1:c.4849A>C	NP_001341826.1:p.Arg1617=
NM_001354898.1:c.4744A>C	NP_001341827.1:p.Arg1582=
NM_001354899.1:c.4735A>C	NP_001341828.1:p.Arg1579=
NM_001354900.1:c.4696A>C	NP_001341829.1:p.Arg1566=
NM_001354901.1:c.4642A>C	NP_001341830.1:p.Arg1548=
NM_001354902.1:c.4546A>C	NP_001341831.1:p.Arg1516=
NM_001354903.1:c.4516A>C	NP_001341832.1:p.Arg1506=
NM_001354904.1:c.4441A>C	NP_001341833.1:p.Arg1481=
NM_001354905.1:c.4339A>C	NP_001341834.1:p.Arg1447=
NM_001354906.1:c.3970A>C	NP_001341835.1:p.Arg1324=
NM_000038.6:c.4819A>C MANE Select	NP_000029.2:p.Arg1607=
NM_001127510.3:c.4819A>C	NP_001120982.1:p.Arg1607=
NM_001127511.3:c.4765A>C	NP_001120983.2:p.Arg1589=
NM_001354895.2:c.4819A>C	NP_001341824.1:p.Arg1607=
NM_001354896.2:c.4873A>C	NP_001341825.1:p.Arg1625=
NM_001354897.2:c.4849A>C	NP_001341826.1:p.Arg1617=
NM_001354898.2:c.4744A>C	NP_001341827.1:p.Arg1582=
NM_001354899.2:c.4735A>C	NP_001341828.1:p.Arg1579=
NM_001354900.2:c.4696A>C	NP_001341829.1:p.Arg1566=
NM_001354901.2:c.4642A>C	NP_001341830.1:p.Arg1548=
NM_001354902.2:c.4546A>C	NP_001341831.1:p.Arg1516=
NM_001354903.2:c.4516A>C	NP_001341832.1:p.Arg1506=
NM_001354904.2:c.4441A>C	NP_001341833.1:p.Arg1481=
NM_001354905.2:c.4339A>C	NP_001341834.1:p.Arg1447=
NM_001354906.2:c.3970A>C	NP_001341835.1:p.Arg1324=