Canonical Allele Identifier: CA445758894

Gene: APC

Linked Data

• ClinVar Variation Id: 1137861
• ClinVar RCV Id: RCV003771470
• dbSNP Id: rs2149843044
• MyVariant Identifiers: chr5:g.112170773G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835076G>C , CM000667.2:g.112835076G>C	GRCh38
NC_000005.9:g.112170773G>C , CM000667.1:g.112170773G>C	GRCh37
NC_000005.8:g.112198672G>C	NCBI36
NG_008481.4:g.147556G>C , LRG_130:g.147556G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1534G>C	ENSP00000484935.2:n.1534G>C
ENST00000504915.3:c.1923G>C	ENSP00000473355.2:p.Arg641=
ENST00000505350.2:c.*1875G>C	ENSP00000481752.1:n.*1875G>C
ENST00000507379.6:c.1815G>C	ENSP00000423224.2:p.Arg605=
ENST00000509732.6:c.1869G>C	ENSP00000426541.2:p.Arg623=
ENST00000512211.7:c.1869G>C	ENSP00000423828.3:p.Arg623=
ENST00000257430.9:c.1869G>C MANE Select	ENSP00000257430.4:p.Arg623=
ENST00000257430.8:c.1869G>C	ENSP00000257430.4:p.Arg623=
ENST00000502371.2:c.222G>C
ENST00000504915.2:c.558G>C	ENSP00000473355.1:p.Arg186=
ENST00000507379.5:c.1815G>C	ENSP00000423224.1:p.Arg605=
ENST00000508376.6:c.1869G>C	ENSP00000427089.2:p.Arg623=
ENST00000508624.5:c.*1191G>C	ENSP00000424265.1:n.*1191G>C
ENST00000512211.6:c.1869G>C	ENSP00000423828.2:p.Arg623=
ENST00000520401.1:c.230+6104G>C
NM_000038.5:c.1869G>C	NP_000029.2:p.Arg623=
NM_001127510.2:c.1869G>C	NP_001120982.1:p.Arg623=
NM_001127511.2:c.1815G>C	NP_001120983.2:p.Arg605=
NM_001354895.1:c.1869G>C	NP_001341824.1:p.Arg623=
NM_001354896.1:c.1923G>C	NP_001341825.1:p.Arg641=
NM_001354897.1:c.1899G>C	NP_001341826.1:p.Arg633=
NM_001354898.1:c.1794G>C	NP_001341827.1:p.Arg598=
NM_001354899.1:c.1785G>C	NP_001341828.1:p.Arg595=
NM_001354900.1:c.1746G>C	NP_001341829.1:p.Arg582=
NM_001354901.1:c.1692G>C	NP_001341830.1:p.Arg564=
NM_001354902.1:c.1596G>C	NP_001341831.1:p.Arg532=
NM_001354903.1:c.1566G>C	NP_001341832.1:p.Arg522=
NM_001354904.1:c.1491G>C	NP_001341833.1:p.Arg497=
NM_001354905.1:c.1389G>C	NP_001341834.1:p.Arg463=
NM_001354906.1:c.1020G>C	NP_001341835.1:p.Arg340=
NM_000038.6:c.1869G>C MANE Select	NP_000029.2:p.Arg623=
NM_001127510.3:c.1869G>C	NP_001120982.1:p.Arg623=
NM_001127511.3:c.1815G>C	NP_001120983.2:p.Arg605=
NM_001354895.2:c.1869G>C	NP_001341824.1:p.Arg623=
NM_001354896.2:c.1923G>C	NP_001341825.1:p.Arg641=
NM_001354897.2:c.1899G>C	NP_001341826.1:p.Arg633=
NM_001354898.2:c.1794G>C	NP_001341827.1:p.Arg598=
NM_001354899.2:c.1785G>C	NP_001341828.1:p.Arg595=
NM_001354900.2:c.1746G>C	NP_001341829.1:p.Arg582=
NM_001354901.2:c.1692G>C	NP_001341830.1:p.Arg564=
NM_001354902.2:c.1596G>C	NP_001341831.1:p.Arg532=
NM_001354903.2:c.1566G>C	NP_001341832.1:p.Arg522=
NM_001354904.2:c.1491G>C	NP_001341833.1:p.Arg497=
NM_001354905.2:c.1389G>C	NP_001341834.1:p.Arg463=
NM_001354906.2:c.1020G>C	NP_001341835.1:p.Arg340=