Canonical Allele Identifier: CA446211108

Gene: APC

Linked Data

• ClinVar Variation Id: 2700462
• ClinVar RCV Id: RCV003536231
• dbSNP Id: rs748729919
• MyVariant Identifiers: chr5:g.112178938T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843241T>C , CM000667.2:g.112843241T>C	GRCh38
NC_000005.9:g.112178938T>C , CM000667.1:g.112178938T>C	GRCh37
NC_000005.8:g.112206837T>C	NCBI36
NG_008481.4:g.155721T>C , LRG_130:g.155721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7701T>C	ENSP00000473355.2:p.Arg2567=
ENST00000505350.2:c.*7653T>C	ENSP00000481752.1:n.*7653T>C
ENST00000507379.6:c.7593T>C	ENSP00000423224.2:p.Arg2531=
ENST00000509732.6:c.7647T>C	ENSP00000426541.2:p.Arg2549=
ENST00000512211.7:c.7647T>C	ENSP00000423828.3:p.Arg2549=
ENST00000257430.9:c.7647T>C MANE Select	ENSP00000257430.4:p.Arg2549=
ENST00000257430.8:c.7647T>C	ENSP00000257430.4:p.Arg2549=
ENST00000508376.6:c.7647T>C	ENSP00000427089.2:p.Arg2549=
ENST00000520401.1:c.231-13408T>C
NM_000038.5:c.7647T>C	NP_000029.2:p.Arg2549=
NM_001127510.2:c.7647T>C	NP_001120982.1:p.Arg2549=
NM_001127511.2:c.7593T>C	NP_001120983.2:p.Arg2531=
NM_001354895.1:c.7647T>C	NP_001341824.1:p.Arg2549=
NM_001354896.1:c.7701T>C	NP_001341825.1:p.Arg2567=
NM_001354897.1:c.7677T>C	NP_001341826.1:p.Arg2559=
NM_001354898.1:c.7572T>C	NP_001341827.1:p.Arg2524=
NM_001354899.1:c.7563T>C	NP_001341828.1:p.Arg2521=
NM_001354900.1:c.7524T>C	NP_001341829.1:p.Arg2508=
NM_001354901.1:c.7470T>C	NP_001341830.1:p.Arg2490=
NM_001354902.1:c.7374T>C	NP_001341831.1:p.Arg2458=
NM_001354903.1:c.7344T>C	NP_001341832.1:p.Arg2448=
NM_001354904.1:c.7269T>C	NP_001341833.1:p.Arg2423=
NM_001354905.1:c.7167T>C	NP_001341834.1:p.Arg2389=
NM_001354906.1:c.6798T>C	NP_001341835.1:p.Arg2266=
NM_000038.6:c.7647T>C MANE Select	NP_000029.2:p.Arg2549=
NM_001127510.3:c.7647T>C	NP_001120982.1:p.Arg2549=
NM_001127511.3:c.7593T>C	NP_001120983.2:p.Arg2531=
NM_001354895.2:c.7647T>C	NP_001341824.1:p.Arg2549=
NM_001354896.2:c.7701T>C	NP_001341825.1:p.Arg2567=
NM_001354897.2:c.7677T>C	NP_001341826.1:p.Arg2559=
NM_001354898.2:c.7572T>C	NP_001341827.1:p.Arg2524=
NM_001354899.2:c.7563T>C	NP_001341828.1:p.Arg2521=
NM_001354900.2:c.7524T>C	NP_001341829.1:p.Arg2508=
NM_001354901.2:c.7470T>C	NP_001341830.1:p.Arg2490=
NM_001354902.2:c.7374T>C	NP_001341831.1:p.Arg2458=
NM_001354903.2:c.7344T>C	NP_001341832.1:p.Arg2448=
NM_001354904.2:c.7269T>C	NP_001341833.1:p.Arg2423=
NM_001354905.2:c.7167T>C	NP_001341834.1:p.Arg2389=
NM_001354906.2:c.6798T>C	NP_001341835.1:p.Arg2266=