Canonical Allele Identifier: CA16038305

Gene: APC

Linked Data

• ClinVar Variation Id: 947448
• ClinVar RCV Id: RCV003650729 ; RCV003163678
• dbSNP Id: rs201625142
• gnomAD v2: 5-112179104-C-G
• gnomAD v3: 5-112843407-C-G
• gnomAD v4: 5-112843407-C-G
• MyVariant Identifiers: chr5:g.112179104C>G (hg19) ; chr5:g.112843407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843407C>G , CM000667.2:g.112843407C>G	GRCh38
NC_000005.9:g.112179104C>G , CM000667.1:g.112179104C>G	GRCh37
NC_000005.8:g.112207003C>G	NCBI36
NG_008481.4:g.155887C>G , LRG_130:g.155887C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7867C>G	ENSP00000473355.2:p.Gln2623Glu
ENST00000505350.2:c.*7819C>G	ENSP00000481752.1:n.*7819C>G
ENST00000507379.6:c.7759C>G	ENSP00000423224.2:p.Gln2587Glu
ENST00000509732.6:c.7813C>G	ENSP00000426541.2:p.Gln2605Glu
ENST00000512211.7:c.7813C>G	ENSP00000423828.3:p.Gln2605Glu
ENST00000257430.9:c.7813C>G MANE Select	ENSP00000257430.4:p.Gln2605Glu
ENST00000257430.8:c.7813C>G	ENSP00000257430.4:p.Gln2605Glu
ENST00000508376.6:c.7813C>G	ENSP00000427089.2:p.Gln2605Glu
ENST00000520401.1:c.231-13242C>G
NM_000038.5:c.7813C>G	NP_000029.2:p.Gln2605Glu
NM_001127510.2:c.7813C>G	NP_001120982.1:p.Gln2605Glu
NM_001127511.2:c.7759C>G	NP_001120983.2:p.Gln2587Glu
NM_001354895.1:c.7813C>G	NP_001341824.1:p.Gln2605Glu
NM_001354896.1:c.7867C>G	NP_001341825.1:p.Gln2623Glu
NM_001354897.1:c.7843C>G	NP_001341826.1:p.Gln2615Glu
NM_001354898.1:c.7738C>G	NP_001341827.1:p.Gln2580Glu
NM_001354899.1:c.7729C>G	NP_001341828.1:p.Gln2577Glu
NM_001354900.1:c.7690C>G	NP_001341829.1:p.Gln2564Glu
NM_001354901.1:c.7636C>G	NP_001341830.1:p.Gln2546Glu
NM_001354902.1:c.7540C>G	NP_001341831.1:p.Gln2514Glu
NM_001354903.1:c.7510C>G	NP_001341832.1:p.Gln2504Glu
NM_001354904.1:c.7435C>G	NP_001341833.1:p.Gln2479Glu
NM_001354905.1:c.7333C>G	NP_001341834.1:p.Gln2445Glu
NM_001354906.1:c.6964C>G	NP_001341835.1:p.Gln2322Glu
NM_000038.6:c.7813C>G MANE Select	NP_000029.2:p.Gln2605Glu
NM_001127510.3:c.7813C>G	NP_001120982.1:p.Gln2605Glu
NM_001127511.3:c.7759C>G	NP_001120983.2:p.Gln2587Glu
NM_001354895.2:c.7813C>G	NP_001341824.1:p.Gln2605Glu
NM_001354896.2:c.7867C>G	NP_001341825.1:p.Gln2623Glu
NM_001354897.2:c.7843C>G	NP_001341826.1:p.Gln2615Glu
NM_001354898.2:c.7738C>G	NP_001341827.1:p.Gln2580Glu
NM_001354899.2:c.7729C>G	NP_001341828.1:p.Gln2577Glu
NM_001354900.2:c.7690C>G	NP_001341829.1:p.Gln2564Glu
NM_001354901.2:c.7636C>G	NP_001341830.1:p.Gln2546Glu
NM_001354902.2:c.7540C>G	NP_001341831.1:p.Gln2514Glu
NM_001354903.2:c.7510C>G	NP_001341832.1:p.Gln2504Glu
NM_001354904.2:c.7435C>G	NP_001341833.1:p.Gln2479Glu
NM_001354905.2:c.7333C>G	NP_001341834.1:p.Gln2445Glu
NM_001354906.2:c.6964C>G	NP_001341835.1:p.Gln2322Glu