Canonical Allele Identifier: CA16028361

Gene: APC

Linked Data

• ClinVar Variation Id: 490258
• ClinVar RCV Id: RCV000583699 ; RCV003337321
• dbSNP Id: rs1554084848
• MyVariant Identifiers: chr5:g.112174494C>G (hg19) ; chr5:g.112838797C>G (hg38)
• PubMed: PMID:12010888 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838797C>G , CM000667.2:g.112838797C>G	GRCh38
NC_000005.9:g.112174494C>G , CM000667.1:g.112174494C>G	GRCh37
NC_000005.8:g.112202393C>G	NCBI36
NG_008481.4:g.151277C>G , LRG_130:g.151277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2868C>G	ENSP00000484935.2:n.2868C>G
ENST00000504915.3:c.3257C>G	ENSP00000473355.2:p.Ser1086Ter
ENST00000505350.2:c.*3209C>G	ENSP00000481752.1:n.*3209C>G
ENST00000507379.6:c.3149C>G	ENSP00000423224.2:p.Ser1050Ter
ENST00000509732.6:c.3203C>G	ENSP00000426541.2:p.Ser1068Ter
ENST00000512211.7:c.3203C>G	ENSP00000423828.3:p.Ser1068Ter
ENST00000257430.9:c.3203C>G MANE Select	ENSP00000257430.4:p.Ser1068Ter
ENST00000257430.8:c.3203C>G	ENSP00000257430.4:p.Ser1068Ter
ENST00000502371.2:c.1556C>G
ENST00000507379.5:c.3149C>G	ENSP00000423224.1:p.Ser1050Ter
ENST00000508376.6:c.3203C>G	ENSP00000427089.2:p.Ser1068Ter
ENST00000508624.5:c.*2525C>G	ENSP00000424265.1:n.*2525C>G
ENST00000512211.6:c.3203C>G	ENSP00000423828.2:p.Ser1068Ter
ENST00000520401.1:c.230+9825C>G
NM_000038.5:c.3203C>G	NP_000029.2:p.Ser1068Ter
NM_001127510.2:c.3203C>G	NP_001120982.1:p.Ser1068Ter
NM_001127511.2:c.3149C>G	NP_001120983.2:p.Ser1050Ter
NM_001354895.1:c.3203C>G	NP_001341824.1:p.Ser1068Ter
NM_001354896.1:c.3257C>G	NP_001341825.1:p.Ser1086Ter
NM_001354897.1:c.3233C>G	NP_001341826.1:p.Ser1078Ter
NM_001354898.1:c.3128C>G	NP_001341827.1:p.Ser1043Ter
NM_001354899.1:c.3119C>G	NP_001341828.1:p.Ser1040Ter
NM_001354900.1:c.3080C>G	NP_001341829.1:p.Ser1027Ter
NM_001354901.1:c.3026C>G	NP_001341830.1:p.Ser1009Ter
NM_001354902.1:c.2930C>G	NP_001341831.1:p.Ser977Ter
NM_001354903.1:c.2900C>G	NP_001341832.1:p.Ser967Ter
NM_001354904.1:c.2825C>G	NP_001341833.1:p.Ser942Ter
NM_001354905.1:c.2723C>G	NP_001341834.1:p.Ser908Ter
NM_001354906.1:c.2354C>G	NP_001341835.1:p.Ser785Ter
NM_000038.6:c.3203C>G MANE Select	NP_000029.2:p.Ser1068Ter
NM_001127510.3:c.3203C>G	NP_001120982.1:p.Ser1068Ter
NM_001127511.3:c.3149C>G	NP_001120983.2:p.Ser1050Ter
NM_001354895.2:c.3203C>G	NP_001341824.1:p.Ser1068Ter
NM_001354896.2:c.3257C>G	NP_001341825.1:p.Ser1086Ter
NM_001354897.2:c.3233C>G	NP_001341826.1:p.Ser1078Ter
NM_001354898.2:c.3128C>G	NP_001341827.1:p.Ser1043Ter
NM_001354899.2:c.3119C>G	NP_001341828.1:p.Ser1040Ter
NM_001354900.2:c.3080C>G	NP_001341829.1:p.Ser1027Ter
NM_001354901.2:c.3026C>G	NP_001341830.1:p.Ser1009Ter
NM_001354902.2:c.2930C>G	NP_001341831.1:p.Ser977Ter
NM_001354903.2:c.2900C>G	NP_001341832.1:p.Ser967Ter
NM_001354904.2:c.2825C>G	NP_001341833.1:p.Ser942Ter
NM_001354905.2:c.2723C>G	NP_001341834.1:p.Ser908Ter
NM_001354906.2:c.2354C>G	NP_001341835.1:p.Ser785Ter