Canonical Allele Identifier: CA16038670

Gene: APC

Linked Data

• ClinVar Variation Id: 1692406
• ClinVar RCV Id: RCV002255905 ; RCV003534850 ; RCV004005563
• dbSNP Id: rs1170745005
• gnomAD v2: 5-112179275-G-C
• gnomAD v4: 5-112843578-G-C
• MyVariant Identifiers: chr5:g.112179275G>C (hg19) ; chr5:g.112843578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843578G>C , CM000667.2:g.112843578G>C	GRCh38
NC_000005.9:g.112179275G>C , CM000667.1:g.112179275G>C	GRCh37
NC_000005.8:g.112207174G>C	NCBI36
NG_008481.4:g.156058G>C , LRG_130:g.156058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8038G>C	ENSP00000473355.2:p.Glu2680Gln
ENST00000505350.2:c.*7990G>C	ENSP00000481752.1:n.*7990G>C
ENST00000507379.6:c.7930G>C	ENSP00000423224.2:p.Glu2644Gln
ENST00000509732.6:c.7984G>C	ENSP00000426541.2:p.Glu2662Gln
ENST00000512211.7:c.7984G>C	ENSP00000423828.3:p.Glu2662Gln
ENST00000257430.9:c.7984G>C MANE Select	ENSP00000257430.4:p.Glu2662Gln
ENST00000257430.8:c.7984G>C	ENSP00000257430.4:p.Glu2662Gln
ENST00000508376.6:c.7984G>C	ENSP00000427089.2:p.Glu2662Gln
ENST00000520401.1:c.231-13071G>C
NM_000038.5:c.7984G>C	NP_000029.2:p.Glu2662Gln
NM_001127510.2:c.7984G>C	NP_001120982.1:p.Glu2662Gln
NM_001127511.2:c.7930G>C	NP_001120983.2:p.Glu2644Gln
NM_001354895.1:c.7984G>C	NP_001341824.1:p.Glu2662Gln
NM_001354896.1:c.8038G>C	NP_001341825.1:p.Glu2680Gln
NM_001354897.1:c.8014G>C	NP_001341826.1:p.Glu2672Gln
NM_001354898.1:c.7909G>C	NP_001341827.1:p.Glu2637Gln
NM_001354899.1:c.7900G>C	NP_001341828.1:p.Glu2634Gln
NM_001354900.1:c.7861G>C	NP_001341829.1:p.Glu2621Gln
NM_001354901.1:c.7807G>C	NP_001341830.1:p.Glu2603Gln
NM_001354902.1:c.7711G>C	NP_001341831.1:p.Glu2571Gln
NM_001354903.1:c.7681G>C	NP_001341832.1:p.Glu2561Gln
NM_001354904.1:c.7606G>C	NP_001341833.1:p.Glu2536Gln
NM_001354905.1:c.7504G>C	NP_001341834.1:p.Glu2502Gln
NM_001354906.1:c.7135G>C	NP_001341835.1:p.Glu2379Gln
NM_000038.6:c.7984G>C MANE Select	NP_000029.2:p.Glu2662Gln
NM_001127510.3:c.7984G>C	NP_001120982.1:p.Glu2662Gln
NM_001127511.3:c.7930G>C	NP_001120983.2:p.Glu2644Gln
NM_001354895.2:c.7984G>C	NP_001341824.1:p.Glu2662Gln
NM_001354896.2:c.8038G>C	NP_001341825.1:p.Glu2680Gln
NM_001354897.2:c.8014G>C	NP_001341826.1:p.Glu2672Gln
NM_001354898.2:c.7909G>C	NP_001341827.1:p.Glu2637Gln
NM_001354899.2:c.7900G>C	NP_001341828.1:p.Glu2634Gln
NM_001354900.2:c.7861G>C	NP_001341829.1:p.Glu2621Gln
NM_001354901.2:c.7807G>C	NP_001341830.1:p.Glu2603Gln
NM_001354902.2:c.7711G>C	NP_001341831.1:p.Glu2571Gln
NM_001354903.2:c.7681G>C	NP_001341832.1:p.Glu2561Gln
NM_001354904.2:c.7606G>C	NP_001341833.1:p.Glu2536Gln
NM_001354905.2:c.7504G>C	NP_001341834.1:p.Glu2502Gln
NM_001354906.2:c.7135G>C	NP_001341835.1:p.Glu2379Gln