Canonical Allele Identifier: CA031174

Gene: APC

Linked Data

• ClinVar Variation Id: 418611
• ClinVar RCV Id: RCV002526522
• dbSNP Id: rs748868815
• ExAC: 5:112173500 T / C
• gnomAD v2: 5-112173500-T-C
• gnomAD v3: 5-112837803-T-C
• gnomAD v4: 5-112837803-T-C
• MyVariant Identifiers: chr5:g.112173500T>C (hg19) ; chr5:g.112837803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837803T>C , CM000667.2:g.112837803T>C	GRCh38
NC_000005.9:g.112173500T>C , CM000667.1:g.112173500T>C	GRCh37
NC_000005.8:g.112201399T>C	NCBI36
NG_008481.4:g.150283T>C , LRG_130:g.150283T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1874T>C	ENSP00000484935.2:n.1874T>C
ENST00000504915.3:c.2263T>C	ENSP00000473355.2:p.Tyr755His
ENST00000505350.2:c.*2215T>C	ENSP00000481752.1:n.*2215T>C
ENST00000507379.6:c.2155T>C	ENSP00000423224.2:p.Tyr719His
ENST00000509732.6:c.2209T>C	ENSP00000426541.2:p.Tyr737His
ENST00000512211.7:c.2209T>C	ENSP00000423828.3:p.Tyr737His
ENST00000257430.9:c.2209T>C MANE Select	ENSP00000257430.4:p.Tyr737His
ENST00000257430.8:c.2209T>C	ENSP00000257430.4:p.Tyr737His
ENST00000502371.2:c.562T>C
ENST00000507379.5:c.2155T>C	ENSP00000423224.1:p.Tyr719His
ENST00000508376.6:c.2209T>C	ENSP00000427089.2:p.Tyr737His
ENST00000508624.5:c.*1531T>C	ENSP00000424265.1:n.*1531T>C
ENST00000512211.6:c.2209T>C	ENSP00000423828.2:p.Tyr737His
ENST00000520401.1:c.230+8831T>C
NM_000038.5:c.2209T>C	NP_000029.2:p.Tyr737His
NM_001127510.2:c.2209T>C	NP_001120982.1:p.Tyr737His
NM_001127511.2:c.2155T>C	NP_001120983.2:p.Tyr719His
NM_001354895.1:c.2209T>C	NP_001341824.1:p.Tyr737His
NM_001354896.1:c.2263T>C	NP_001341825.1:p.Tyr755His
NM_001354897.1:c.2239T>C	NP_001341826.1:p.Tyr747His
NM_001354898.1:c.2134T>C	NP_001341827.1:p.Tyr712His
NM_001354899.1:c.2125T>C	NP_001341828.1:p.Tyr709His
NM_001354900.1:c.2086T>C	NP_001341829.1:p.Tyr696His
NM_001354901.1:c.2032T>C	NP_001341830.1:p.Tyr678His
NM_001354902.1:c.1936T>C	NP_001341831.1:p.Tyr646His
NM_001354903.1:c.1906T>C	NP_001341832.1:p.Tyr636His
NM_001354904.1:c.1831T>C	NP_001341833.1:p.Tyr611His
NM_001354905.1:c.1729T>C	NP_001341834.1:p.Tyr577His
NM_001354906.1:c.1360T>C	NP_001341835.1:p.Tyr454His
NM_000038.6:c.2209T>C MANE Select	NP_000029.2:p.Tyr737His
NM_001127510.3:c.2209T>C	NP_001120982.1:p.Tyr737His
NM_001127511.3:c.2155T>C	NP_001120983.2:p.Tyr719His
NM_001354895.2:c.2209T>C	NP_001341824.1:p.Tyr737His
NM_001354896.2:c.2263T>C	NP_001341825.1:p.Tyr755His
NM_001354897.2:c.2239T>C	NP_001341826.1:p.Tyr747His
NM_001354898.2:c.2134T>C	NP_001341827.1:p.Tyr712His
NM_001354899.2:c.2125T>C	NP_001341828.1:p.Tyr709His
NM_001354900.2:c.2086T>C	NP_001341829.1:p.Tyr696His
NM_001354901.2:c.2032T>C	NP_001341830.1:p.Tyr678His
NM_001354902.2:c.1936T>C	NP_001341831.1:p.Tyr646His
NM_001354903.2:c.1906T>C	NP_001341832.1:p.Tyr636His
NM_001354904.2:c.1831T>C	NP_001341833.1:p.Tyr611His
NM_001354905.2:c.1729T>C	NP_001341834.1:p.Tyr577His
NM_001354906.2:c.1360T>C	NP_001341835.1:p.Tyr454His