Canonical Allele Identifier: CA16028712

Gene: APC

Linked Data

• ClinVar Variation Id: 628008
• ClinVar RCV Id: RCV000772282 ; RCV003768326
• dbSNP Id: rs587779789
• gnomAD v4: 5-112838962-A-G
• MyVariant Identifiers: chr5:g.112174659A>G (hg19) ; chr5:g.112838962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838962A>G , CM000667.2:g.112838962A>G	GRCh38
NC_000005.9:g.112174659A>G , CM000667.1:g.112174659A>G	GRCh37
NC_000005.8:g.112202558A>G	NCBI36
NG_008481.4:g.151442A>G , LRG_130:g.151442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3033A>G	ENSP00000484935.2:n.3033A>G
ENST00000504915.3:c.3422A>G	ENSP00000473355.2:p.Gln1141Arg
ENST00000505350.2:c.*3374A>G	ENSP00000481752.1:n.*3374A>G
ENST00000507379.6:c.3314A>G	ENSP00000423224.2:p.Gln1105Arg
ENST00000509732.6:c.3368A>G	ENSP00000426541.2:p.Gln1123Arg
ENST00000512211.7:c.3368A>G	ENSP00000423828.3:p.Gln1123Arg
ENST00000257430.9:c.3368A>G MANE Select	ENSP00000257430.4:p.Gln1123Arg
ENST00000257430.8:c.3368A>G	ENSP00000257430.4:p.Gln1123Arg
ENST00000502371.2:c.1721A>G
ENST00000507379.5:c.3314A>G	ENSP00000423224.1:p.Gln1105Arg
ENST00000508376.6:c.3368A>G	ENSP00000427089.2:p.Gln1123Arg
ENST00000508624.5:c.*2690A>G	ENSP00000424265.1:n.*2690A>G
ENST00000512211.6:c.3368A>G	ENSP00000423828.2:p.Gln1123Arg
ENST00000520401.1:c.230+9990A>G
NM_000038.5:c.3368A>G	NP_000029.2:p.Gln1123Arg
NM_001127510.2:c.3368A>G	NP_001120982.1:p.Gln1123Arg
NM_001127511.2:c.3314A>G	NP_001120983.2:p.Gln1105Arg
NM_001354895.1:c.3368A>G	NP_001341824.1:p.Gln1123Arg
NM_001354896.1:c.3422A>G	NP_001341825.1:p.Gln1141Arg
NM_001354897.1:c.3398A>G	NP_001341826.1:p.Gln1133Arg
NM_001354898.1:c.3293A>G	NP_001341827.1:p.Gln1098Arg
NM_001354899.1:c.3284A>G	NP_001341828.1:p.Gln1095Arg
NM_001354900.1:c.3245A>G	NP_001341829.1:p.Gln1082Arg
NM_001354901.1:c.3191A>G	NP_001341830.1:p.Gln1064Arg
NM_001354902.1:c.3095A>G	NP_001341831.1:p.Gln1032Arg
NM_001354903.1:c.3065A>G	NP_001341832.1:p.Gln1022Arg
NM_001354904.1:c.2990A>G	NP_001341833.1:p.Gln997Arg
NM_001354905.1:c.2888A>G	NP_001341834.1:p.Gln963Arg
NM_001354906.1:c.2519A>G	NP_001341835.1:p.Gln840Arg
NM_000038.6:c.3368A>G MANE Select	NP_000029.2:p.Gln1123Arg
NM_001127510.3:c.3368A>G	NP_001120982.1:p.Gln1123Arg
NM_001127511.3:c.3314A>G	NP_001120983.2:p.Gln1105Arg
NM_001354895.2:c.3368A>G	NP_001341824.1:p.Gln1123Arg
NM_001354896.2:c.3422A>G	NP_001341825.1:p.Gln1141Arg
NM_001354897.2:c.3398A>G	NP_001341826.1:p.Gln1133Arg
NM_001354898.2:c.3293A>G	NP_001341827.1:p.Gln1098Arg
NM_001354899.2:c.3284A>G	NP_001341828.1:p.Gln1095Arg
NM_001354900.2:c.3245A>G	NP_001341829.1:p.Gln1082Arg
NM_001354901.2:c.3191A>G	NP_001341830.1:p.Gln1064Arg
NM_001354902.2:c.3095A>G	NP_001341831.1:p.Gln1032Arg
NM_001354903.2:c.3065A>G	NP_001341832.1:p.Gln1022Arg
NM_001354904.2:c.2990A>G	NP_001341833.1:p.Gln997Arg
NM_001354905.2:c.2888A>G	NP_001341834.1:p.Gln963Arg
NM_001354906.2:c.2519A>G	NP_001341835.1:p.Gln840Arg