Canonical Allele Identifier: CA16037940

Gene: APC

Linked Data

• dbSNP Id: rs199558585
• MyVariant Identifiers: chr5:g.112178937G>C (hg19) ; chr5:g.112843240G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843240G>C , CM000667.2:g.112843240G>C	GRCh38
NC_000005.9:g.112178937G>C , CM000667.1:g.112178937G>C	GRCh37
NC_000005.8:g.112206836G>C	NCBI36
NG_008481.4:g.155720G>C , LRG_130:g.155720G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7700G>C	ENSP00000473355.2:p.Arg2567Pro
ENST00000505350.2:c.*7652G>C	ENSP00000481752.1:n.*7652G>C
ENST00000507379.6:c.7592G>C	ENSP00000423224.2:p.Arg2531Pro
ENST00000509732.6:c.7646G>C	ENSP00000426541.2:p.Arg2549Pro
ENST00000512211.7:c.7646G>C	ENSP00000423828.3:p.Arg2549Pro
ENST00000257430.9:c.7646G>C MANE Select	ENSP00000257430.4:p.Arg2549Pro
ENST00000257430.8:c.7646G>C	ENSP00000257430.4:p.Arg2549Pro
ENST00000508376.6:c.7646G>C	ENSP00000427089.2:p.Arg2549Pro
ENST00000520401.1:c.231-13409G>C
NM_000038.5:c.7646G>C	NP_000029.2:p.Arg2549Pro
NM_001127510.2:c.7646G>C	NP_001120982.1:p.Arg2549Pro
NM_001127511.2:c.7592G>C	NP_001120983.2:p.Arg2531Pro
NM_001354895.1:c.7646G>C	NP_001341824.1:p.Arg2549Pro
NM_001354896.1:c.7700G>C	NP_001341825.1:p.Arg2567Pro
NM_001354897.1:c.7676G>C	NP_001341826.1:p.Arg2559Pro
NM_001354898.1:c.7571G>C	NP_001341827.1:p.Arg2524Pro
NM_001354899.1:c.7562G>C	NP_001341828.1:p.Arg2521Pro
NM_001354900.1:c.7523G>C	NP_001341829.1:p.Arg2508Pro
NM_001354901.1:c.7469G>C	NP_001341830.1:p.Arg2490Pro
NM_001354902.1:c.7373G>C	NP_001341831.1:p.Arg2458Pro
NM_001354903.1:c.7343G>C	NP_001341832.1:p.Arg2448Pro
NM_001354904.1:c.7268G>C	NP_001341833.1:p.Arg2423Pro
NM_001354905.1:c.7166G>C	NP_001341834.1:p.Arg2389Pro
NM_001354906.1:c.6797G>C	NP_001341835.1:p.Arg2266Pro
NM_000038.6:c.7646G>C MANE Select	NP_000029.2:p.Arg2549Pro
NM_001127510.3:c.7646G>C	NP_001120982.1:p.Arg2549Pro
NM_001127511.3:c.7592G>C	NP_001120983.2:p.Arg2531Pro
NM_001354895.2:c.7646G>C	NP_001341824.1:p.Arg2549Pro
NM_001354896.2:c.7700G>C	NP_001341825.1:p.Arg2567Pro
NM_001354897.2:c.7676G>C	NP_001341826.1:p.Arg2559Pro
NM_001354898.2:c.7571G>C	NP_001341827.1:p.Arg2524Pro
NM_001354899.2:c.7562G>C	NP_001341828.1:p.Arg2521Pro
NM_001354900.2:c.7523G>C	NP_001341829.1:p.Arg2508Pro
NM_001354901.2:c.7469G>C	NP_001341830.1:p.Arg2490Pro
NM_001354902.2:c.7373G>C	NP_001341831.1:p.Arg2458Pro
NM_001354903.2:c.7343G>C	NP_001341832.1:p.Arg2448Pro
NM_001354904.2:c.7268G>C	NP_001341833.1:p.Arg2423Pro
NM_001354905.2:c.7166G>C	NP_001341834.1:p.Arg2389Pro
NM_001354906.2:c.6797G>C	NP_001341835.1:p.Arg2266Pro