Canonical Allele Identifier: CA008636

Gene: APC

Linked Data

• ClinVar Variation Id: 142015
• ClinVar RCV Id: RCV000130799 ; RCV000484966 ; RCV002514736 ; RCV003650396 ; RCV003998080
• dbSNP Id: rs573020080
• gnomAD v4: 5-112839285-C-G
• MyVariant Identifiers: chr5:g.112174982C>G (hg19) ; chr5:g.112839285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839285C>G , CM000667.2:g.112839285C>G	GRCh38
NC_000005.9:g.112174982C>G , CM000667.1:g.112174982C>G	GRCh37
NC_000005.8:g.112202881C>G	NCBI36
NG_008481.4:g.151765C>G , LRG_130:g.151765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3356C>G	ENSP00000484935.2:n.3356C>G
ENST00000504915.3:c.3745C>G	ENSP00000473355.2:p.Leu1249Val
ENST00000505350.2:c.*3697C>G	ENSP00000481752.1:n.*3697C>G
ENST00000507379.6:c.3637C>G	ENSP00000423224.2:p.Leu1213Val
ENST00000509732.6:c.3691C>G	ENSP00000426541.2:p.Leu1231Val
ENST00000512211.7:c.3691C>G	ENSP00000423828.3:p.Leu1231Val
ENST00000257430.9:c.3691C>G MANE Select	ENSP00000257430.4:p.Leu1231Val
ENST00000257430.8:c.3691C>G	ENSP00000257430.4:p.Leu1231Val
ENST00000502371.2:c.2044C>G
ENST00000508376.6:c.3691C>G	ENSP00000427089.2:p.Leu1231Val
ENST00000508624.5:c.*3013C>G	ENSP00000424265.1:n.*3013C>G
ENST00000512211.6:c.3691C>G	ENSP00000423828.2:p.Leu1231Val
ENST00000520401.1:c.230+10313C>G
NM_000038.5:c.3691C>G	NP_000029.2:p.Leu1231Val
NM_001127510.2:c.3691C>G	NP_001120982.1:p.Leu1231Val
NM_001127511.2:c.3637C>G	NP_001120983.2:p.Leu1213Val
NM_001354895.1:c.3691C>G	NP_001341824.1:p.Leu1231Val
NM_001354896.1:c.3745C>G	NP_001341825.1:p.Leu1249Val
NM_001354897.1:c.3721C>G	NP_001341826.1:p.Leu1241Val
NM_001354898.1:c.3616C>G	NP_001341827.1:p.Leu1206Val
NM_001354899.1:c.3607C>G	NP_001341828.1:p.Leu1203Val
NM_001354900.1:c.3568C>G	NP_001341829.1:p.Leu1190Val
NM_001354901.1:c.3514C>G	NP_001341830.1:p.Leu1172Val
NM_001354902.1:c.3418C>G	NP_001341831.1:p.Leu1140Val
NM_001354903.1:c.3388C>G	NP_001341832.1:p.Leu1130Val
NM_001354904.1:c.3313C>G	NP_001341833.1:p.Leu1105Val
NM_001354905.1:c.3211C>G	NP_001341834.1:p.Leu1071Val
NM_001354906.1:c.2842C>G	NP_001341835.1:p.Leu948Val
NM_000038.6:c.3691C>G MANE Select	NP_000029.2:p.Leu1231Val
NM_001127510.3:c.3691C>G	NP_001120982.1:p.Leu1231Val
NM_001127511.3:c.3637C>G	NP_001120983.2:p.Leu1213Val
NM_001354895.2:c.3691C>G	NP_001341824.1:p.Leu1231Val
NM_001354896.2:c.3745C>G	NP_001341825.1:p.Leu1249Val
NM_001354897.2:c.3721C>G	NP_001341826.1:p.Leu1241Val
NM_001354898.2:c.3616C>G	NP_001341827.1:p.Leu1206Val
NM_001354899.2:c.3607C>G	NP_001341828.1:p.Leu1203Val
NM_001354900.2:c.3568C>G	NP_001341829.1:p.Leu1190Val
NM_001354901.2:c.3514C>G	NP_001341830.1:p.Leu1172Val
NM_001354902.2:c.3418C>G	NP_001341831.1:p.Leu1140Val
NM_001354903.2:c.3388C>G	NP_001341832.1:p.Leu1130Val
NM_001354904.2:c.3313C>G	NP_001341833.1:p.Leu1105Val
NM_001354905.2:c.3211C>G	NP_001341834.1:p.Leu1071Val
NM_001354906.2:c.2842C>G	NP_001341835.1:p.Leu948Val