Canonical Allele Identifier: CA16038609

Gene: APC

Linked Data

• ClinVar Variation Id: 537551
• ClinVar RCV Id: RCV001155675 ; RCV002258987 ; RCV003538516
• dbSNP Id: rs1554088788
• gnomAD v4: 5-112843551-A-G
• MyVariant Identifiers: chr5:g.112179248A>G (hg19) ; chr5:g.112843551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843551A>G , CM000667.2:g.112843551A>G	GRCh38
NC_000005.9:g.112179248A>G , CM000667.1:g.112179248A>G	GRCh37
NC_000005.8:g.112207147A>G	NCBI36
NG_008481.4:g.156031A>G , LRG_130:g.156031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8011A>G	ENSP00000473355.2:p.Lys2671Glu
ENST00000505350.2:c.*7963A>G	ENSP00000481752.1:n.*7963A>G
ENST00000507379.6:c.7903A>G	ENSP00000423224.2:p.Lys2635Glu
ENST00000509732.6:c.7957A>G	ENSP00000426541.2:p.Lys2653Glu
ENST00000512211.7:c.7957A>G	ENSP00000423828.3:p.Lys2653Glu
ENST00000257430.9:c.7957A>G MANE Select	ENSP00000257430.4:p.Lys2653Glu
ENST00000257430.8:c.7957A>G	ENSP00000257430.4:p.Lys2653Glu
ENST00000508376.6:c.7957A>G	ENSP00000427089.2:p.Lys2653Glu
ENST00000520401.1:c.231-13098A>G
NM_000038.5:c.7957A>G	NP_000029.2:p.Lys2653Glu
NM_001127510.2:c.7957A>G	NP_001120982.1:p.Lys2653Glu
NM_001127511.2:c.7903A>G	NP_001120983.2:p.Lys2635Glu
NM_001354895.1:c.7957A>G	NP_001341824.1:p.Lys2653Glu
NM_001354896.1:c.8011A>G	NP_001341825.1:p.Lys2671Glu
NM_001354897.1:c.7987A>G	NP_001341826.1:p.Lys2663Glu
NM_001354898.1:c.7882A>G	NP_001341827.1:p.Lys2628Glu
NM_001354899.1:c.7873A>G	NP_001341828.1:p.Lys2625Glu
NM_001354900.1:c.7834A>G	NP_001341829.1:p.Lys2612Glu
NM_001354901.1:c.7780A>G	NP_001341830.1:p.Lys2594Glu
NM_001354902.1:c.7684A>G	NP_001341831.1:p.Lys2562Glu
NM_001354903.1:c.7654A>G	NP_001341832.1:p.Lys2552Glu
NM_001354904.1:c.7579A>G	NP_001341833.1:p.Lys2527Glu
NM_001354905.1:c.7477A>G	NP_001341834.1:p.Lys2493Glu
NM_001354906.1:c.7108A>G	NP_001341835.1:p.Lys2370Glu
NM_000038.6:c.7957A>G MANE Select	NP_000029.2:p.Lys2653Glu
NM_001127510.3:c.7957A>G	NP_001120982.1:p.Lys2653Glu
NM_001127511.3:c.7903A>G	NP_001120983.2:p.Lys2635Glu
NM_001354895.2:c.7957A>G	NP_001341824.1:p.Lys2653Glu
NM_001354896.2:c.8011A>G	NP_001341825.1:p.Lys2671Glu
NM_001354897.2:c.7987A>G	NP_001341826.1:p.Lys2663Glu
NM_001354898.2:c.7882A>G	NP_001341827.1:p.Lys2628Glu
NM_001354899.2:c.7873A>G	NP_001341828.1:p.Lys2625Glu
NM_001354900.2:c.7834A>G	NP_001341829.1:p.Lys2612Glu
NM_001354901.2:c.7780A>G	NP_001341830.1:p.Lys2594Glu
NM_001354902.2:c.7684A>G	NP_001341831.1:p.Lys2562Glu
NM_001354903.2:c.7654A>G	NP_001341832.1:p.Lys2552Glu
NM_001354904.2:c.7579A>G	NP_001341833.1:p.Lys2527Glu
NM_001354905.2:c.7477A>G	NP_001341834.1:p.Lys2493Glu
NM_001354906.2:c.7108A>G	NP_001341835.1:p.Lys2370Glu