Canonical Allele Identifier: CA16032142

Gene: APC

Linked Data

• ClinVar Variation Id: 1717783
• ClinVar RCV Id: RCV003743871
• dbSNP Id: rs2149927858
• MyVariant Identifiers: chr5:g.112176227G>C (hg19) ; chr5:g.112840530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840530G>C , CM000667.2:g.112840530G>C	GRCh38
NC_000005.9:g.112176227G>C , CM000667.1:g.112176227G>C	GRCh37
NC_000005.8:g.112204126G>C	NCBI36
NG_008481.4:g.153010G>C , LRG_130:g.153010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4990G>C	ENSP00000473355.2:p.Gly1664Arg
ENST00000505350.2:c.*4942G>C	ENSP00000481752.1:n.*4942G>C
ENST00000507379.6:c.4882G>C	ENSP00000423224.2:p.Gly1628Arg
ENST00000509732.6:c.4936G>C	ENSP00000426541.2:p.Gly1646Arg
ENST00000512211.7:c.4936G>C	ENSP00000423828.3:p.Gly1646Arg
ENST00000257430.9:c.4936G>C MANE Select	ENSP00000257430.4:p.Gly1646Arg
ENST00000257430.8:c.4936G>C	ENSP00000257430.4:p.Gly1646Arg
ENST00000508376.6:c.4936G>C	ENSP00000427089.2:p.Gly1646Arg
ENST00000508624.5:c.*4258G>C	ENSP00000424265.1:n.*4258G>C
ENST00000520401.1:c.230+11558G>C
NM_000038.5:c.4936G>C	NP_000029.2:p.Gly1646Arg
NM_001127510.2:c.4936G>C	NP_001120982.1:p.Gly1646Arg
NM_001127511.2:c.4882G>C	NP_001120983.2:p.Gly1628Arg
NM_001354895.1:c.4936G>C	NP_001341824.1:p.Gly1646Arg
NM_001354896.1:c.4990G>C	NP_001341825.1:p.Gly1664Arg
NM_001354897.1:c.4966G>C	NP_001341826.1:p.Gly1656Arg
NM_001354898.1:c.4861G>C	NP_001341827.1:p.Gly1621Arg
NM_001354899.1:c.4852G>C	NP_001341828.1:p.Gly1618Arg
NM_001354900.1:c.4813G>C	NP_001341829.1:p.Gly1605Arg
NM_001354901.1:c.4759G>C	NP_001341830.1:p.Gly1587Arg
NM_001354902.1:c.4663G>C	NP_001341831.1:p.Gly1555Arg
NM_001354903.1:c.4633G>C	NP_001341832.1:p.Gly1545Arg
NM_001354904.1:c.4558G>C	NP_001341833.1:p.Gly1520Arg
NM_001354905.1:c.4456G>C	NP_001341834.1:p.Gly1486Arg
NM_001354906.1:c.4087G>C	NP_001341835.1:p.Gly1363Arg
NM_000038.6:c.4936G>C MANE Select	NP_000029.2:p.Gly1646Arg
NM_001127510.3:c.4936G>C	NP_001120982.1:p.Gly1646Arg
NM_001127511.3:c.4882G>C	NP_001120983.2:p.Gly1628Arg
NM_001354895.2:c.4936G>C	NP_001341824.1:p.Gly1646Arg
NM_001354896.2:c.4990G>C	NP_001341825.1:p.Gly1664Arg
NM_001354897.2:c.4966G>C	NP_001341826.1:p.Gly1656Arg
NM_001354898.2:c.4861G>C	NP_001341827.1:p.Gly1621Arg
NM_001354899.2:c.4852G>C	NP_001341828.1:p.Gly1618Arg
NM_001354900.2:c.4813G>C	NP_001341829.1:p.Gly1605Arg
NM_001354901.2:c.4759G>C	NP_001341830.1:p.Gly1587Arg
NM_001354902.2:c.4663G>C	NP_001341831.1:p.Gly1555Arg
NM_001354903.2:c.4633G>C	NP_001341832.1:p.Gly1545Arg
NM_001354904.2:c.4558G>C	NP_001341833.1:p.Gly1520Arg
NM_001354905.2:c.4456G>C	NP_001341834.1:p.Gly1486Arg
NM_001354906.2:c.4087G>C	NP_001341835.1:p.Gly1363Arg