Canonical Allele Identifier: CA445755848

Gene: APC

Linked Data

• ClinVar Variation Id: 926461
• ClinVar RCV Id: RCV001189058
• dbSNP Id: rs1561545947
• MyVariant Identifiers: chr5:g.112157621T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821924T>C , CM000667.2:g.112821924T>C	GRCh38
NC_000005.9:g.112157621T>C , CM000667.1:g.112157621T>C	GRCh37
NC_000005.8:g.112185520T>C	NCBI36
NG_008481.4:g.134404T>C , LRG_130:g.134404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1341T>C	ENSP00000484935.2:p.Cys447=
ENST00000504915.3:c.1341T>C	ENSP00000473355.2:p.Cys447=
ENST00000505084.2:n.1397T>C
ENST00000505350.2:c.*1347T>C	ENSP00000481752.1:n.*1347T>C
ENST00000507379.6:c.1287T>C	ENSP00000423224.2:p.Cys429=
ENST00000509732.6:c.1341T>C	ENSP00000426541.2:p.Cys447=
ENST00000512211.7:c.1341T>C	ENSP00000423828.3:p.Cys447=
ENST00000257430.9:c.1341T>C MANE Select	ENSP00000257430.4:p.Cys447=
ENST00000257430.8:c.1341T>C	ENSP00000257430.4:p.Cys447=
ENST00000502371.2:c.29T>C
ENST00000507379.5:c.1287T>C	ENSP00000423224.1:p.Cys429=
ENST00000508376.6:c.1341T>C	ENSP00000427089.2:p.Cys447=
ENST00000508624.5:c.*663T>C	ENSP00000424265.1:n.*663T>C
ENST00000512211.6:c.1341T>C	ENSP00000423828.2:p.Cys447=
NM_000038.5:c.1341T>C	NP_000029.2:p.Cys447=
NM_001127510.2:c.1341T>C	NP_001120982.1:p.Cys447=
NM_001127511.2:c.1287T>C	NP_001120983.2:p.Cys429=
NM_001354895.1:c.1341T>C	NP_001341824.1:p.Cys447=
NM_001354896.1:c.1341T>C	NP_001341825.1:p.Cys447=
NM_001354897.1:c.1371T>C	NP_001341826.1:p.Cys457=
NM_001354898.1:c.1266T>C	NP_001341827.1:p.Cys422=
NM_001354899.1:c.1257T>C	NP_001341828.1:p.Cys419=
NM_001354900.1:c.1164T>C	NP_001341829.1:p.Cys388=
NM_001354901.1:c.1164T>C	NP_001341830.1:p.Cys388=
NM_001354902.1:c.1068T>C	NP_001341831.1:p.Cys356=
NM_001354903.1:c.1038T>C	NP_001341832.1:p.Cys346=
NM_001354904.1:c.963T>C	NP_001341833.1:p.Cys321=
NM_001354905.1:c.861T>C	NP_001341834.1:p.Cys287=
NM_001354906.1:c.492T>C	NP_001341835.1:p.Cys164=
NM_000038.6:c.1341T>C MANE Select	NP_000029.2:p.Cys447=
NM_001127510.3:c.1341T>C	NP_001120982.1:p.Cys447=
NM_001127511.3:c.1287T>C	NP_001120983.2:p.Cys429=
NM_001354895.2:c.1341T>C	NP_001341824.1:p.Cys447=
NM_001354896.2:c.1341T>C	NP_001341825.1:p.Cys447=
NM_001354897.2:c.1371T>C	NP_001341826.1:p.Cys457=
NM_001354898.2:c.1266T>C	NP_001341827.1:p.Cys422=
NM_001354899.2:c.1257T>C	NP_001341828.1:p.Cys419=
NM_001354900.2:c.1164T>C	NP_001341829.1:p.Cys388=
NM_001354901.2:c.1164T>C	NP_001341830.1:p.Cys388=
NM_001354902.2:c.1068T>C	NP_001341831.1:p.Cys356=
NM_001354903.2:c.1038T>C	NP_001341832.1:p.Cys346=
NM_001354904.2:c.963T>C	NP_001341833.1:p.Cys321=
NM_001354905.2:c.861T>C	NP_001341834.1:p.Cys287=
NM_001354906.2:c.492T>C	NP_001341835.1:p.Cys164=