Canonical Allele Identifier: CA16025128

Gene: APC

Linked Data

• ClinVar Variation Id: 1012192
• ClinVar RCV Id: RCV001310094
• dbSNP Id: rs1764693751
• COSMIC: COSM4169284
• MyVariant Identifiers: chr5:g.112170648G>T (hg19) ; chr5:g.112834951G>T (hg38)
• PubMed: PMID:19029688

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834951G>T , CM000667.2:g.112834951G>T	GRCh38
NC_000005.9:g.112170648G>T , CM000667.1:g.112170648G>T	GRCh37
NC_000005.8:g.112198547G>T	NCBI36
NG_008481.4:g.147431G>T , LRG_130:g.147431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409G>T	ENSP00000484935.2:p.Gly470Val
ENST00000504915.3:c.1798G>T	ENSP00000473355.2:p.Glu600Ter
ENST00000505350.2:c.*1750G>T	ENSP00000481752.1:n.*1750G>T
ENST00000507379.6:c.1690G>T	ENSP00000423224.2:p.Glu564Ter
ENST00000509732.6:c.1744G>T	ENSP00000426541.2:p.Glu582Ter
ENST00000512211.7:c.1744G>T	ENSP00000423828.3:p.Glu582Ter
ENST00000257430.9:c.1744G>T MANE Select	ENSP00000257430.4:p.Glu582Ter
ENST00000257430.8:c.1744G>T	ENSP00000257430.4:p.Glu582Ter
ENST00000502371.2:c.97G>T
ENST00000504915.2:c.433G>T	ENSP00000473355.1:p.Glu145Ter
ENST00000507379.5:c.1690G>T	ENSP00000423224.1:p.Glu564Ter
ENST00000508376.6:c.1744G>T	ENSP00000427089.2:p.Glu582Ter
ENST00000508624.5:c.*1066G>T	ENSP00000424265.1:n.*1066G>T
ENST00000512211.6:c.1744G>T	ENSP00000423828.2:p.Glu582Ter
ENST00000520401.1:c.230+5979G>T
NM_000038.5:c.1744G>T	NP_000029.2:p.Glu582Ter
NM_001127510.2:c.1744G>T	NP_001120982.1:p.Glu582Ter
NM_001127511.2:c.1690G>T	NP_001120983.2:p.Glu564Ter
NM_001354895.1:c.1744G>T	NP_001341824.1:p.Glu582Ter
NM_001354896.1:c.1798G>T	NP_001341825.1:p.Glu600Ter
NM_001354897.1:c.1774G>T	NP_001341826.1:p.Glu592Ter
NM_001354898.1:c.1669G>T	NP_001341827.1:p.Glu557Ter
NM_001354899.1:c.1660G>T	NP_001341828.1:p.Glu554Ter
NM_001354900.1:c.1621G>T	NP_001341829.1:p.Glu541Ter
NM_001354901.1:c.1567G>T	NP_001341830.1:p.Glu523Ter
NM_001354902.1:c.1471G>T	NP_001341831.1:p.Glu491Ter
NM_001354903.1:c.1441G>T	NP_001341832.1:p.Glu481Ter
NM_001354904.1:c.1366G>T	NP_001341833.1:p.Glu456Ter
NM_001354905.1:c.1264G>T	NP_001341834.1:p.Glu422Ter
NM_001354906.1:c.895G>T	NP_001341835.1:p.Glu299Ter
NM_000038.6:c.1744G>T MANE Select	NP_000029.2:p.Glu582Ter
NM_001127510.3:c.1744G>T	NP_001120982.1:p.Glu582Ter
NM_001127511.3:c.1690G>T	NP_001120983.2:p.Glu564Ter
NM_001354895.2:c.1744G>T	NP_001341824.1:p.Glu582Ter
NM_001354896.2:c.1798G>T	NP_001341825.1:p.Glu600Ter
NM_001354897.2:c.1774G>T	NP_001341826.1:p.Glu592Ter
NM_001354898.2:c.1669G>T	NP_001341827.1:p.Glu557Ter
NM_001354899.2:c.1660G>T	NP_001341828.1:p.Glu554Ter
NM_001354900.2:c.1621G>T	NP_001341829.1:p.Glu541Ter
NM_001354901.2:c.1567G>T	NP_001341830.1:p.Glu523Ter
NM_001354902.2:c.1471G>T	NP_001341831.1:p.Glu491Ter
NM_001354903.2:c.1441G>T	NP_001341832.1:p.Glu481Ter
NM_001354904.2:c.1366G>T	NP_001341833.1:p.Glu456Ter
NM_001354905.2:c.1264G>T	NP_001341834.1:p.Glu422Ter
NM_001354906.2:c.895G>T	NP_001341835.1:p.Glu299Ter