Canonical Allele Identifier: CA10578315

Gene: APC

Linked Data

• ClinVar Variation Id: 233102
• ClinVar RCV Id: RCV000214194 ; RCV000590719 ; RCV002515694
• dbSNP Id: rs876660195
• gnomAD v4: 5-112821949-C-T
• MyVariant Identifiers: chr5:g.112157646C>T (hg19) ; chr5:g.112821949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821949C>T , CM000667.2:g.112821949C>T	GRCh38
NC_000005.9:g.112157646C>T , CM000667.1:g.112157646C>T	GRCh37
NC_000005.8:g.112185545C>T	NCBI36
NG_008481.4:g.134429C>T , LRG_130:g.134429C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1366C>T	ENSP00000484935.2:p.Leu456Phe
ENST00000504915.3:c.1366C>T	ENSP00000473355.2:p.Leu456Phe
ENST00000505084.2:n.1422C>T
ENST00000505350.2:c.*1372C>T	ENSP00000481752.1:n.*1372C>T
ENST00000507379.6:c.1312C>T	ENSP00000423224.2:p.Leu438Phe
ENST00000509732.6:c.1366C>T	ENSP00000426541.2:p.Leu456Phe
ENST00000512211.7:c.1366C>T	ENSP00000423828.3:p.Leu456Phe
ENST00000257430.9:c.1366C>T MANE Select	ENSP00000257430.4:p.Leu456Phe
ENST00000257430.8:c.1366C>T	ENSP00000257430.4:p.Leu456Phe
ENST00000502371.2:c.54C>T
ENST00000504915.2:c.1C>T	ENSP00000473355.1:p.Leu1Phe
ENST00000507379.5:c.1312C>T	ENSP00000423224.1:p.Leu438Phe
ENST00000508376.6:c.1366C>T	ENSP00000427089.2:p.Leu456Phe
ENST00000508624.5:c.*688C>T	ENSP00000424265.1:n.*688C>T
ENST00000512211.6:c.1366C>T	ENSP00000423828.2:p.Leu456Phe
NM_000038.5:c.1366C>T	NP_000029.2:p.Leu456Phe
NM_001127510.2:c.1366C>T	NP_001120982.1:p.Leu456Phe
NM_001127511.2:c.1312C>T	NP_001120983.2:p.Leu438Phe
NM_001354895.1:c.1366C>T	NP_001341824.1:p.Leu456Phe
NM_001354896.1:c.1366C>T	NP_001341825.1:p.Leu456Phe
NM_001354897.1:c.1396C>T	NP_001341826.1:p.Leu466Phe
NM_001354898.1:c.1291C>T	NP_001341827.1:p.Leu431Phe
NM_001354899.1:c.1282C>T	NP_001341828.1:p.Leu428Phe
NM_001354900.1:c.1189C>T	NP_001341829.1:p.Leu397Phe
NM_001354901.1:c.1189C>T	NP_001341830.1:p.Leu397Phe
NM_001354902.1:c.1093C>T	NP_001341831.1:p.Leu365Phe
NM_001354903.1:c.1063C>T	NP_001341832.1:p.Leu355Phe
NM_001354904.1:c.988C>T	NP_001341833.1:p.Leu330Phe
NM_001354905.1:c.886C>T	NP_001341834.1:p.Leu296Phe
NM_001354906.1:c.517C>T	NP_001341835.1:p.Leu173Phe
NM_000038.6:c.1366C>T MANE Select	NP_000029.2:p.Leu456Phe
NM_001127510.3:c.1366C>T	NP_001120982.1:p.Leu456Phe
NM_001127511.3:c.1312C>T	NP_001120983.2:p.Leu438Phe
NM_001354895.2:c.1366C>T	NP_001341824.1:p.Leu456Phe
NM_001354896.2:c.1366C>T	NP_001341825.1:p.Leu456Phe
NM_001354897.2:c.1396C>T	NP_001341826.1:p.Leu466Phe
NM_001354898.2:c.1291C>T	NP_001341827.1:p.Leu431Phe
NM_001354899.2:c.1282C>T	NP_001341828.1:p.Leu428Phe
NM_001354900.2:c.1189C>T	NP_001341829.1:p.Leu397Phe
NM_001354901.2:c.1189C>T	NP_001341830.1:p.Leu397Phe
NM_001354902.2:c.1093C>T	NP_001341831.1:p.Leu365Phe
NM_001354903.2:c.1063C>T	NP_001341832.1:p.Leu355Phe
NM_001354904.2:c.988C>T	NP_001341833.1:p.Leu330Phe
NM_001354905.2:c.886C>T	NP_001341834.1:p.Leu296Phe
NM_001354906.2:c.517C>T	NP_001341835.1:p.Leu173Phe