Canonical Allele Identifier: CA16024199

Gene: APC

Linked Data

• ClinVar Variation Id: 2763216
• ClinVar RCV Id: RCV003538052
• dbSNP Id: rs1444245614
• MyVariant Identifiers: chr5:g.112157601C>T (hg19) ; chr5:g.112821904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821904C>T , CM000667.2:g.112821904C>T	GRCh38
NC_000005.9:g.112157601C>T , CM000667.1:g.112157601C>T	GRCh37
NC_000005.8:g.112185500C>T	NCBI36
NG_008481.4:g.134384C>T , LRG_130:g.134384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1321C>T	ENSP00000484935.2:p.Pro441Ser
ENST00000504915.3:c.1321C>T	ENSP00000473355.2:p.Pro441Ser
ENST00000505084.2:n.1377C>T
ENST00000505350.2:c.*1327C>T	ENSP00000481752.1:n.*1327C>T
ENST00000507379.6:c.1267C>T	ENSP00000423224.2:p.Pro423Ser
ENST00000509732.6:c.1321C>T	ENSP00000426541.2:p.Pro441Ser
ENST00000512211.7:c.1321C>T	ENSP00000423828.3:p.Pro441Ser
ENST00000257430.9:c.1321C>T MANE Select	ENSP00000257430.4:p.Pro441Ser
ENST00000257430.8:c.1321C>T	ENSP00000257430.4:p.Pro441Ser
ENST00000502371.2:c.9C>T
ENST00000507379.5:c.1267C>T	ENSP00000423224.1:p.Pro423Ser
ENST00000508376.6:c.1321C>T	ENSP00000427089.2:p.Pro441Ser
ENST00000508624.5:c.*643C>T	ENSP00000424265.1:n.*643C>T
ENST00000512211.6:c.1321C>T	ENSP00000423828.2:p.Pro441Ser
NM_000038.5:c.1321C>T	NP_000029.2:p.Pro441Ser
NM_001127510.2:c.1321C>T	NP_001120982.1:p.Pro441Ser
NM_001127511.2:c.1267C>T	NP_001120983.2:p.Pro423Ser
NM_001354895.1:c.1321C>T	NP_001341824.1:p.Pro441Ser
NM_001354896.1:c.1321C>T	NP_001341825.1:p.Pro441Ser
NM_001354897.1:c.1351C>T	NP_001341826.1:p.Pro451Ser
NM_001354898.1:c.1246C>T	NP_001341827.1:p.Pro416Ser
NM_001354899.1:c.1237C>T	NP_001341828.1:p.Pro413Ser
NM_001354900.1:c.1144C>T	NP_001341829.1:p.Pro382Ser
NM_001354901.1:c.1144C>T	NP_001341830.1:p.Pro382Ser
NM_001354902.1:c.1048C>T	NP_001341831.1:p.Pro350Ser
NM_001354903.1:c.1018C>T	NP_001341832.1:p.Pro340Ser
NM_001354904.1:c.943C>T	NP_001341833.1:p.Pro315Ser
NM_001354905.1:c.841C>T	NP_001341834.1:p.Pro281Ser
NM_001354906.1:c.472C>T	NP_001341835.1:p.Pro158Ser
NM_000038.6:c.1321C>T MANE Select	NP_000029.2:p.Pro441Ser
NM_001127510.3:c.1321C>T	NP_001120982.1:p.Pro441Ser
NM_001127511.3:c.1267C>T	NP_001120983.2:p.Pro423Ser
NM_001354895.2:c.1321C>T	NP_001341824.1:p.Pro441Ser
NM_001354896.2:c.1321C>T	NP_001341825.1:p.Pro441Ser
NM_001354897.2:c.1351C>T	NP_001341826.1:p.Pro451Ser
NM_001354898.2:c.1246C>T	NP_001341827.1:p.Pro416Ser
NM_001354899.2:c.1237C>T	NP_001341828.1:p.Pro413Ser
NM_001354900.2:c.1144C>T	NP_001341829.1:p.Pro382Ser
NM_001354901.2:c.1144C>T	NP_001341830.1:p.Pro382Ser
NM_001354902.2:c.1048C>T	NP_001341831.1:p.Pro350Ser
NM_001354903.2:c.1018C>T	NP_001341832.1:p.Pro340Ser
NM_001354904.2:c.943C>T	NP_001341833.1:p.Pro315Ser
NM_001354905.2:c.841C>T	NP_001341834.1:p.Pro281Ser
NM_001354906.2:c.472C>T	NP_001341835.1:p.Pro158Ser