Canonical Allele Identifier: CA10578441

Gene: APC

Linked Data

• ClinVar Variation Id: 229786
• ClinVar RCV Id: RCV000605613 ; RCV003534499 ; RCV000214601 ; RCV003407747
• dbSNP Id: rs876658194
• gnomAD v4: 5-112842878-A-G
• MyVariant Identifiers: chr5:g.112178575A>G (hg19) ; chr5:g.112842878A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842878A>G , CM000667.2:g.112842878A>G	GRCh38
NC_000005.9:g.112178575A>G , CM000667.1:g.112178575A>G	GRCh37
NC_000005.8:g.112206474A>G	NCBI36
NG_008481.4:g.155358A>G , LRG_130:g.155358A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7338A>G	ENSP00000473355.2:p.Glu2446=
ENST00000505350.2:c.*7290A>G	ENSP00000481752.1:n.*7290A>G
ENST00000507379.6:c.7230A>G	ENSP00000423224.2:p.Glu2410=
ENST00000509732.6:c.7284A>G	ENSP00000426541.2:p.Glu2428=
ENST00000512211.7:c.7284A>G	ENSP00000423828.3:p.Glu2428=
ENST00000257430.9:c.7284A>G MANE Select	ENSP00000257430.4:p.Glu2428=
ENST00000257430.8:c.7284A>G	ENSP00000257430.4:p.Glu2428=
ENST00000508376.6:c.7284A>G	ENSP00000427089.2:p.Glu2428=
ENST00000520401.1:c.231-13771A>G
NM_000038.5:c.7284A>G	NP_000029.2:p.Glu2428=
NM_001127510.2:c.7284A>G	NP_001120982.1:p.Glu2428=
NM_001127511.2:c.7230A>G	NP_001120983.2:p.Glu2410=
NM_001354895.1:c.7284A>G	NP_001341824.1:p.Glu2428=
NM_001354896.1:c.7338A>G	NP_001341825.1:p.Glu2446=
NM_001354897.1:c.7314A>G	NP_001341826.1:p.Glu2438=
NM_001354898.1:c.7209A>G	NP_001341827.1:p.Glu2403=
NM_001354899.1:c.7200A>G	NP_001341828.1:p.Glu2400=
NM_001354900.1:c.7161A>G	NP_001341829.1:p.Glu2387=
NM_001354901.1:c.7107A>G	NP_001341830.1:p.Glu2369=
NM_001354902.1:c.7011A>G	NP_001341831.1:p.Glu2337=
NM_001354903.1:c.6981A>G	NP_001341832.1:p.Glu2327=
NM_001354904.1:c.6906A>G	NP_001341833.1:p.Glu2302=
NM_001354905.1:c.6804A>G	NP_001341834.1:p.Glu2268=
NM_001354906.1:c.6435A>G	NP_001341835.1:p.Glu2145=
NM_000038.6:c.7284A>G MANE Select	NP_000029.2:p.Glu2428=
NM_001127510.3:c.7284A>G	NP_001120982.1:p.Glu2428=
NM_001127511.3:c.7230A>G	NP_001120983.2:p.Glu2410=
NM_001354895.2:c.7284A>G	NP_001341824.1:p.Glu2428=
NM_001354896.2:c.7338A>G	NP_001341825.1:p.Glu2446=
NM_001354897.2:c.7314A>G	NP_001341826.1:p.Glu2438=
NM_001354898.2:c.7209A>G	NP_001341827.1:p.Glu2403=
NM_001354899.2:c.7200A>G	NP_001341828.1:p.Glu2400=
NM_001354900.2:c.7161A>G	NP_001341829.1:p.Glu2387=
NM_001354901.2:c.7107A>G	NP_001341830.1:p.Glu2369=
NM_001354902.2:c.7011A>G	NP_001341831.1:p.Glu2337=
NM_001354903.2:c.6981A>G	NP_001341832.1:p.Glu2327=
NM_001354904.2:c.6906A>G	NP_001341833.1:p.Glu2302=
NM_001354905.2:c.6804A>G	NP_001341834.1:p.Glu2268=
NM_001354906.2:c.6435A>G	NP_001341835.1:p.Glu2145=