Canonical Allele Identifier: CA125167787

Gene: APC

Linked Data

• ClinVar Variation Id: 825117
• ClinVar RCV Id: RCV001022939 ; RCV004004633 ; RCV003769568 ; RCV004030832
• dbSNP Id: rs201764198
• MyVariant Identifiers: chr5:g.112176001T>C (hg19) ; chr5:g.112840304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840304T>C , CM000667.2:g.112840304T>C	GRCh38
NC_000005.9:g.112176001T>C , CM000667.1:g.112176001T>C	GRCh37
NC_000005.8:g.112203900T>C	NCBI36
NG_008481.4:g.152784T>C , LRG_130:g.152784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4764T>C	ENSP00000473355.2:p.Asp1588=
ENST00000505350.2:c.*4716T>C	ENSP00000481752.1:n.*4716T>C
ENST00000507379.6:c.4656T>C	ENSP00000423224.2:p.Asp1552=
ENST00000509732.6:c.4710T>C	ENSP00000426541.2:p.Asp1570=
ENST00000512211.7:c.4710T>C	ENSP00000423828.3:p.Asp1570=
ENST00000257430.9:c.4710T>C MANE Select	ENSP00000257430.4:p.Asp1570=
ENST00000257430.8:c.4710T>C	ENSP00000257430.4:p.Asp1570=
ENST00000508376.6:c.4710T>C	ENSP00000427089.2:p.Asp1570=
ENST00000508624.5:c.*4032T>C	ENSP00000424265.1:n.*4032T>C
ENST00000520401.1:c.230+11332T>C
NM_000038.5:c.4710T>C	NP_000029.2:p.Asp1570=
NM_001127510.2:c.4710T>C	NP_001120982.1:p.Asp1570=
NM_001127511.2:c.4656T>C	NP_001120983.2:p.Asp1552=
NM_001354895.1:c.4710T>C	NP_001341824.1:p.Asp1570=
NM_001354896.1:c.4764T>C	NP_001341825.1:p.Asp1588=
NM_001354897.1:c.4740T>C	NP_001341826.1:p.Asp1580=
NM_001354898.1:c.4635T>C	NP_001341827.1:p.Asp1545=
NM_001354899.1:c.4626T>C	NP_001341828.1:p.Asp1542=
NM_001354900.1:c.4587T>C	NP_001341829.1:p.Asp1529=
NM_001354901.1:c.4533T>C	NP_001341830.1:p.Asp1511=
NM_001354902.1:c.4437T>C	NP_001341831.1:p.Asp1479=
NM_001354903.1:c.4407T>C	NP_001341832.1:p.Asp1469=
NM_001354904.1:c.4332T>C	NP_001341833.1:p.Asp1444=
NM_001354905.1:c.4230T>C	NP_001341834.1:p.Asp1410=
NM_001354906.1:c.3861T>C	NP_001341835.1:p.Asp1287=
NM_000038.6:c.4710T>C MANE Select	NP_000029.2:p.Asp1570=
NM_001127510.3:c.4710T>C	NP_001120982.1:p.Asp1570=
NM_001127511.3:c.4656T>C	NP_001120983.2:p.Asp1552=
NM_001354895.2:c.4710T>C	NP_001341824.1:p.Asp1570=
NM_001354896.2:c.4764T>C	NP_001341825.1:p.Asp1588=
NM_001354897.2:c.4740T>C	NP_001341826.1:p.Asp1580=
NM_001354898.2:c.4635T>C	NP_001341827.1:p.Asp1545=
NM_001354899.2:c.4626T>C	NP_001341828.1:p.Asp1542=
NM_001354900.2:c.4587T>C	NP_001341829.1:p.Asp1529=
NM_001354901.2:c.4533T>C	NP_001341830.1:p.Asp1511=
NM_001354902.2:c.4437T>C	NP_001341831.1:p.Asp1479=
NM_001354903.2:c.4407T>C	NP_001341832.1:p.Asp1469=
NM_001354904.2:c.4332T>C	NP_001341833.1:p.Asp1444=
NM_001354905.2:c.4230T>C	NP_001341834.1:p.Asp1410=
NM_001354906.2:c.3861T>C	NP_001341835.1:p.Asp1287=