Canonical Allele Identifier: CA446211222

Gene: APC

Linked Data

• ClinVar Variation Id: 486775
• ClinVar RCV Id: RCV000568143 ; RCV002232665
• dbSNP Id: rs1158207177
• gnomAD v4: 5-112843742-G-A
• MyVariant Identifiers: chr5:g.112179439G>A (hg19) ; chr5:g.112843742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843742G>A , CM000667.2:g.112843742G>A	GRCh38
NC_000005.9:g.112179439G>A , CM000667.1:g.112179439G>A	GRCh37
NC_000005.8:g.112207338G>A	NCBI36
NG_008481.4:g.156222G>A , LRG_130:g.156222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8202G>A	ENSP00000473355.2:p.Val2734=
ENST00000505350.2:c.*8154G>A	ENSP00000481752.1:n.*8154G>A
ENST00000507379.6:c.8094G>A	ENSP00000423224.2:p.Val2698=
ENST00000509732.6:c.8148G>A	ENSP00000426541.2:p.Val2716=
ENST00000512211.7:c.8148G>A	ENSP00000423828.3:p.Val2716=
ENST00000257430.9:c.8148G>A MANE Select	ENSP00000257430.4:p.Val2716=
ENST00000257430.8:c.8148G>A	ENSP00000257430.4:p.Val2716=
ENST00000508376.6:c.8148G>A	ENSP00000427089.2:p.Val2716=
ENST00000520401.1:c.231-12907G>A
NM_000038.5:c.8148G>A	NP_000029.2:p.Val2716=
NM_001127510.2:c.8148G>A	NP_001120982.1:p.Val2716=
NM_001127511.2:c.8094G>A	NP_001120983.2:p.Val2698=
NM_001354895.1:c.8148G>A	NP_001341824.1:p.Val2716=
NM_001354896.1:c.8202G>A	NP_001341825.1:p.Val2734=
NM_001354897.1:c.8178G>A	NP_001341826.1:p.Val2726=
NM_001354898.1:c.8073G>A	NP_001341827.1:p.Val2691=
NM_001354899.1:c.8064G>A	NP_001341828.1:p.Val2688=
NM_001354900.1:c.8025G>A	NP_001341829.1:p.Val2675=
NM_001354901.1:c.7971G>A	NP_001341830.1:p.Val2657=
NM_001354902.1:c.7875G>A	NP_001341831.1:p.Val2625=
NM_001354903.1:c.7845G>A	NP_001341832.1:p.Val2615=
NM_001354904.1:c.7770G>A	NP_001341833.1:p.Val2590=
NM_001354905.1:c.7668G>A	NP_001341834.1:p.Val2556=
NM_001354906.1:c.7299G>A	NP_001341835.1:p.Val2433=
NM_000038.6:c.8148G>A MANE Select	NP_000029.2:p.Val2716=
NM_001127510.3:c.8148G>A	NP_001120982.1:p.Val2716=
NM_001127511.3:c.8094G>A	NP_001120983.2:p.Val2698=
NM_001354895.2:c.8148G>A	NP_001341824.1:p.Val2716=
NM_001354896.2:c.8202G>A	NP_001341825.1:p.Val2734=
NM_001354897.2:c.8178G>A	NP_001341826.1:p.Val2726=
NM_001354898.2:c.8073G>A	NP_001341827.1:p.Val2691=
NM_001354899.2:c.8064G>A	NP_001341828.1:p.Val2688=
NM_001354900.2:c.8025G>A	NP_001341829.1:p.Val2675=
NM_001354901.2:c.7971G>A	NP_001341830.1:p.Val2657=
NM_001354902.2:c.7875G>A	NP_001341831.1:p.Val2625=
NM_001354903.2:c.7845G>A	NP_001341832.1:p.Val2615=
NM_001354904.2:c.7770G>A	NP_001341833.1:p.Val2590=
NM_001354905.2:c.7668G>A	NP_001341834.1:p.Val2556=
NM_001354906.2:c.7299G>A	NP_001341835.1:p.Val2433=