Canonical Allele Identifier: CA279766

Gene: APC

Linked Data

• ClinVar Variation Id: 217986
• ClinVar RCV Id: RCV000202166 ; RCV003327380 ; RCV003534483 ; RCV002519589
• dbSNP Id: rs863225357
• COSMIC: COSM19414
• MyVariant Identifiers: chr5:g.112175936C>T (hg19) ; chr5:g.112840239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840239C>T , CM000667.2:g.112840239C>T	GRCh38
NC_000005.9:g.112175936C>T , CM000667.1:g.112175936C>T	GRCh37
NC_000005.8:g.112203835C>T	NCBI36
NG_008481.4:g.152719C>T , LRG_130:g.152719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4699C>T	ENSP00000473355.2:p.Gln1567Ter
ENST00000505350.2:c.*4651C>T	ENSP00000481752.1:n.*4651C>T
ENST00000507379.6:c.4591C>T	ENSP00000423224.2:p.Gln1531Ter
ENST00000509732.6:c.4645C>T	ENSP00000426541.2:p.Gln1549Ter
ENST00000512211.7:c.4645C>T	ENSP00000423828.3:p.Gln1549Ter
ENST00000257430.9:c.4645C>T MANE Select	ENSP00000257430.4:p.Gln1549Ter
ENST00000257430.8:c.4645C>T	ENSP00000257430.4:p.Gln1549Ter
ENST00000508376.6:c.4645C>T	ENSP00000427089.2:p.Gln1549Ter
ENST00000508624.5:c.*3967C>T	ENSP00000424265.1:n.*3967C>T
ENST00000520401.1:c.230+11267C>T
NM_000038.5:c.4645C>T	NP_000029.2:p.Gln1549Ter
NM_001127510.2:c.4645C>T	NP_001120982.1:p.Gln1549Ter
NM_001127511.2:c.4591C>T	NP_001120983.2:p.Gln1531Ter
NM_001354895.1:c.4645C>T	NP_001341824.1:p.Gln1549Ter
NM_001354896.1:c.4699C>T	NP_001341825.1:p.Gln1567Ter
NM_001354897.1:c.4675C>T	NP_001341826.1:p.Gln1559Ter
NM_001354898.1:c.4570C>T	NP_001341827.1:p.Gln1524Ter
NM_001354899.1:c.4561C>T	NP_001341828.1:p.Gln1521Ter
NM_001354900.1:c.4522C>T	NP_001341829.1:p.Gln1508Ter
NM_001354901.1:c.4468C>T	NP_001341830.1:p.Gln1490Ter
NM_001354902.1:c.4372C>T	NP_001341831.1:p.Gln1458Ter
NM_001354903.1:c.4342C>T	NP_001341832.1:p.Gln1448Ter
NM_001354904.1:c.4267C>T	NP_001341833.1:p.Gln1423Ter
NM_001354905.1:c.4165C>T	NP_001341834.1:p.Gln1389Ter
NM_001354906.1:c.3796C>T	NP_001341835.1:p.Gln1266Ter
NM_000038.6:c.4645C>T MANE Select	NP_000029.2:p.Gln1549Ter
NM_001127510.3:c.4645C>T	NP_001120982.1:p.Gln1549Ter
NM_001127511.3:c.4591C>T	NP_001120983.2:p.Gln1531Ter
NM_001354895.2:c.4645C>T	NP_001341824.1:p.Gln1549Ter
NM_001354896.2:c.4699C>T	NP_001341825.1:p.Gln1567Ter
NM_001354897.2:c.4675C>T	NP_001341826.1:p.Gln1559Ter
NM_001354898.2:c.4570C>T	NP_001341827.1:p.Gln1524Ter
NM_001354899.2:c.4561C>T	NP_001341828.1:p.Gln1521Ter
NM_001354900.2:c.4522C>T	NP_001341829.1:p.Gln1508Ter
NM_001354901.2:c.4468C>T	NP_001341830.1:p.Gln1490Ter
NM_001354902.2:c.4372C>T	NP_001341831.1:p.Gln1458Ter
NM_001354903.2:c.4342C>T	NP_001341832.1:p.Gln1448Ter
NM_001354904.2:c.4267C>T	NP_001341833.1:p.Gln1423Ter
NM_001354905.2:c.4165C>T	NP_001341834.1:p.Gln1389Ter
NM_001354906.2:c.3796C>T	NP_001341835.1:p.Gln1266Ter