Canonical Allele Identifier: CA006202

Gene: APC

Linked Data

• ClinVar Variation Id: 181790
• ClinVar RCV Id: RCV000581316 ; RCV000772640
• dbSNP Id: rs730881238
• ExAC: 5:112170771 C / T
• gnomAD v2: 5-112170771-C-T
• gnomAD v4: 5-112835074-C-T
• COSMIC: COSM5723772
• MyVariant Identifiers: chr5:g.112170771C>T (hg19) ; chr5:g.112835074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835074C>T , CM000667.2:g.112835074C>T	GRCh38
NC_000005.9:g.112170771C>T , CM000667.1:g.112170771C>T	GRCh37
NC_000005.8:g.112198670C>T	NCBI36
NG_008481.4:g.147554C>T , LRG_130:g.147554C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1532C>T	ENSP00000484935.2:n.1532C>T
ENST00000504915.3:c.1921C>T	ENSP00000473355.2:p.Arg641Trp
ENST00000505350.2:c.*1873C>T	ENSP00000481752.1:n.*1873C>T
ENST00000507379.6:c.1813C>T	ENSP00000423224.2:p.Arg605Trp
ENST00000509732.6:c.1867C>T	ENSP00000426541.2:p.Arg623Trp
ENST00000512211.7:c.1867C>T	ENSP00000423828.3:p.Arg623Trp
ENST00000257430.9:c.1867C>T MANE Select	ENSP00000257430.4:p.Arg623Trp
ENST00000257430.8:c.1867C>T	ENSP00000257430.4:p.Arg623Trp
ENST00000502371.2:c.220C>T
ENST00000504915.2:c.556C>T	ENSP00000473355.1:p.Arg186Trp
ENST00000507379.5:c.1813C>T	ENSP00000423224.1:p.Arg605Trp
ENST00000508376.6:c.1867C>T	ENSP00000427089.2:p.Arg623Trp
ENST00000508624.5:c.*1189C>T	ENSP00000424265.1:n.*1189C>T
ENST00000512211.6:c.1867C>T	ENSP00000423828.2:p.Arg623Trp
ENST00000520401.1:c.230+6102C>T
NM_000038.5:c.1867C>T	NP_000029.2:p.Arg623Trp
NM_001127510.2:c.1867C>T	NP_001120982.1:p.Arg623Trp
NM_001127511.2:c.1813C>T	NP_001120983.2:p.Arg605Trp
NM_001354895.1:c.1867C>T	NP_001341824.1:p.Arg623Trp
NM_001354896.1:c.1921C>T	NP_001341825.1:p.Arg641Trp
NM_001354897.1:c.1897C>T	NP_001341826.1:p.Arg633Trp
NM_001354898.1:c.1792C>T	NP_001341827.1:p.Arg598Trp
NM_001354899.1:c.1783C>T	NP_001341828.1:p.Arg595Trp
NM_001354900.1:c.1744C>T	NP_001341829.1:p.Arg582Trp
NM_001354901.1:c.1690C>T	NP_001341830.1:p.Arg564Trp
NM_001354902.1:c.1594C>T	NP_001341831.1:p.Arg532Trp
NM_001354903.1:c.1564C>T	NP_001341832.1:p.Arg522Trp
NM_001354904.1:c.1489C>T	NP_001341833.1:p.Arg497Trp
NM_001354905.1:c.1387C>T	NP_001341834.1:p.Arg463Trp
NM_001354906.1:c.1018C>T	NP_001341835.1:p.Arg340Trp
NM_000038.6:c.1867C>T MANE Select	NP_000029.2:p.Arg623Trp
NM_001127510.3:c.1867C>T	NP_001120982.1:p.Arg623Trp
NM_001127511.3:c.1813C>T	NP_001120983.2:p.Arg605Trp
NM_001354895.2:c.1867C>T	NP_001341824.1:p.Arg623Trp
NM_001354896.2:c.1921C>T	NP_001341825.1:p.Arg641Trp
NM_001354897.2:c.1897C>T	NP_001341826.1:p.Arg633Trp
NM_001354898.2:c.1792C>T	NP_001341827.1:p.Arg598Trp
NM_001354899.2:c.1783C>T	NP_001341828.1:p.Arg595Trp
NM_001354900.2:c.1744C>T	NP_001341829.1:p.Arg582Trp
NM_001354901.2:c.1690C>T	NP_001341830.1:p.Arg564Trp
NM_001354902.2:c.1594C>T	NP_001341831.1:p.Arg532Trp
NM_001354903.2:c.1564C>T	NP_001341832.1:p.Arg522Trp
NM_001354904.2:c.1489C>T	NP_001341833.1:p.Arg497Trp
NM_001354905.2:c.1387C>T	NP_001341834.1:p.Arg463Trp
NM_001354906.2:c.1018C>T	NP_001341835.1:p.Arg340Trp