Canonical Allele Identifier: CA16038751

Gene: APC

Linked Data

• ClinVar Variation Id: 2677396
• ClinVar RCV Id: RCV003463218 ; RCV003745600 ; RCV004364790
• dbSNP Id: rs1766624875
• gnomAD v4: 5-112843614-T-C
• MyVariant Identifiers: chr5:g.112179311T>C (hg19) ; chr5:g.112843614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843614T>C , CM000667.2:g.112843614T>C	GRCh38
NC_000005.9:g.112179311T>C , CM000667.1:g.112179311T>C	GRCh37
NC_000005.8:g.112207210T>C	NCBI36
NG_008481.4:g.156094T>C , LRG_130:g.156094T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8074T>C	ENSP00000473355.2:p.Ser2692Pro
ENST00000505350.2:c.*8026T>C	ENSP00000481752.1:n.*8026T>C
ENST00000507379.6:c.7966T>C	ENSP00000423224.2:p.Ser2656Pro
ENST00000509732.6:c.8020T>C	ENSP00000426541.2:p.Ser2674Pro
ENST00000512211.7:c.8020T>C	ENSP00000423828.3:p.Ser2674Pro
ENST00000257430.9:c.8020T>C MANE Select	ENSP00000257430.4:p.Ser2674Pro
ENST00000257430.8:c.8020T>C	ENSP00000257430.4:p.Ser2674Pro
ENST00000508376.6:c.8020T>C	ENSP00000427089.2:p.Ser2674Pro
ENST00000520401.1:c.231-13035T>C
NM_000038.5:c.8020T>C	NP_000029.2:p.Ser2674Pro
NM_001127510.2:c.8020T>C	NP_001120982.1:p.Ser2674Pro
NM_001127511.2:c.7966T>C	NP_001120983.2:p.Ser2656Pro
NM_001354895.1:c.8020T>C	NP_001341824.1:p.Ser2674Pro
NM_001354896.1:c.8074T>C	NP_001341825.1:p.Ser2692Pro
NM_001354897.1:c.8050T>C	NP_001341826.1:p.Ser2684Pro
NM_001354898.1:c.7945T>C	NP_001341827.1:p.Ser2649Pro
NM_001354899.1:c.7936T>C	NP_001341828.1:p.Ser2646Pro
NM_001354900.1:c.7897T>C	NP_001341829.1:p.Ser2633Pro
NM_001354901.1:c.7843T>C	NP_001341830.1:p.Ser2615Pro
NM_001354902.1:c.7747T>C	NP_001341831.1:p.Ser2583Pro
NM_001354903.1:c.7717T>C	NP_001341832.1:p.Ser2573Pro
NM_001354904.1:c.7642T>C	NP_001341833.1:p.Ser2548Pro
NM_001354905.1:c.7540T>C	NP_001341834.1:p.Ser2514Pro
NM_001354906.1:c.7171T>C	NP_001341835.1:p.Ser2391Pro
NM_000038.6:c.8020T>C MANE Select	NP_000029.2:p.Ser2674Pro
NM_001127510.3:c.8020T>C	NP_001120982.1:p.Ser2674Pro
NM_001127511.3:c.7966T>C	NP_001120983.2:p.Ser2656Pro
NM_001354895.2:c.8020T>C	NP_001341824.1:p.Ser2674Pro
NM_001354896.2:c.8074T>C	NP_001341825.1:p.Ser2692Pro
NM_001354897.2:c.8050T>C	NP_001341826.1:p.Ser2684Pro
NM_001354898.2:c.7945T>C	NP_001341827.1:p.Ser2649Pro
NM_001354899.2:c.7936T>C	NP_001341828.1:p.Ser2646Pro
NM_001354900.2:c.7897T>C	NP_001341829.1:p.Ser2633Pro
NM_001354901.2:c.7843T>C	NP_001341830.1:p.Ser2615Pro
NM_001354902.2:c.7747T>C	NP_001341831.1:p.Ser2583Pro
NM_001354903.2:c.7717T>C	NP_001341832.1:p.Ser2573Pro
NM_001354904.2:c.7642T>C	NP_001341833.1:p.Ser2548Pro
NM_001354905.2:c.7540T>C	NP_001341834.1:p.Ser2514Pro
NM_001354906.2:c.7171T>C	NP_001341835.1:p.Ser2391Pro