Canonical Allele Identifier: CA10578440

Gene: APC

Linked Data

• ClinVar Variation Id: 233880
• ClinVar RCV Id: RCV000214045 ; RCV003535592
• dbSNP Id: rs876660705
• gnomAD v4: 5-112842802-A-C
• MyVariant Identifiers: chr5:g.112178499A>C (hg19) ; chr5:g.112842802A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842802A>C , CM000667.2:g.112842802A>C	GRCh38
NC_000005.9:g.112178499A>C , CM000667.1:g.112178499A>C	GRCh37
NC_000005.8:g.112206398A>C	NCBI36
NG_008481.4:g.155282A>C , LRG_130:g.155282A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7262A>C	ENSP00000473355.2:p.Gln2421Pro
ENST00000505350.2:c.*7214A>C	ENSP00000481752.1:n.*7214A>C
ENST00000507379.6:c.7154A>C	ENSP00000423224.2:p.Gln2385Pro
ENST00000509732.6:c.7208A>C	ENSP00000426541.2:p.Gln2403Pro
ENST00000512211.7:c.7208A>C	ENSP00000423828.3:p.Gln2403Pro
ENST00000257430.9:c.7208A>C MANE Select	ENSP00000257430.4:p.Gln2403Pro
ENST00000257430.8:c.7208A>C	ENSP00000257430.4:p.Gln2403Pro
ENST00000508376.6:c.7208A>C	ENSP00000427089.2:p.Gln2403Pro
ENST00000520401.1:c.230+13830A>C
NM_000038.5:c.7208A>C	NP_000029.2:p.Gln2403Pro
NM_001127510.2:c.7208A>C	NP_001120982.1:p.Gln2403Pro
NM_001127511.2:c.7154A>C	NP_001120983.2:p.Gln2385Pro
NM_001354895.1:c.7208A>C	NP_001341824.1:p.Gln2403Pro
NM_001354896.1:c.7262A>C	NP_001341825.1:p.Gln2421Pro
NM_001354897.1:c.7238A>C	NP_001341826.1:p.Gln2413Pro
NM_001354898.1:c.7133A>C	NP_001341827.1:p.Gln2378Pro
NM_001354899.1:c.7124A>C	NP_001341828.1:p.Gln2375Pro
NM_001354900.1:c.7085A>C	NP_001341829.1:p.Gln2362Pro
NM_001354901.1:c.7031A>C	NP_001341830.1:p.Gln2344Pro
NM_001354902.1:c.6935A>C	NP_001341831.1:p.Gln2312Pro
NM_001354903.1:c.6905A>C	NP_001341832.1:p.Gln2302Pro
NM_001354904.1:c.6830A>C	NP_001341833.1:p.Gln2277Pro
NM_001354905.1:c.6728A>C	NP_001341834.1:p.Gln2243Pro
NM_001354906.1:c.6359A>C	NP_001341835.1:p.Gln2120Pro
NM_000038.6:c.7208A>C MANE Select	NP_000029.2:p.Gln2403Pro
NM_001127510.3:c.7208A>C	NP_001120982.1:p.Gln2403Pro
NM_001127511.3:c.7154A>C	NP_001120983.2:p.Gln2385Pro
NM_001354895.2:c.7208A>C	NP_001341824.1:p.Gln2403Pro
NM_001354896.2:c.7262A>C	NP_001341825.1:p.Gln2421Pro
NM_001354897.2:c.7238A>C	NP_001341826.1:p.Gln2413Pro
NM_001354898.2:c.7133A>C	NP_001341827.1:p.Gln2378Pro
NM_001354899.2:c.7124A>C	NP_001341828.1:p.Gln2375Pro
NM_001354900.2:c.7085A>C	NP_001341829.1:p.Gln2362Pro
NM_001354901.2:c.7031A>C	NP_001341830.1:p.Gln2344Pro
NM_001354902.2:c.6935A>C	NP_001341831.1:p.Gln2312Pro
NM_001354903.2:c.6905A>C	NP_001341832.1:p.Gln2302Pro
NM_001354904.2:c.6830A>C	NP_001341833.1:p.Gln2277Pro
NM_001354905.2:c.6728A>C	NP_001341834.1:p.Gln2243Pro
NM_001354906.2:c.6359A>C	NP_001341835.1:p.Gln2120Pro