Canonical Allele Identifier: CA16039069

Gene: APC

Linked Data

• ClinVar Variation Id: 947593
• ClinVar RCV Id: RCV003650732
• dbSNP Id: rs1766671144
• MyVariant Identifiers: chr5:g.112179462C>T (hg19) ; chr5:g.112843765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843765C>T , CM000667.2:g.112843765C>T	GRCh38
NC_000005.9:g.112179462C>T , CM000667.1:g.112179462C>T	GRCh37
NC_000005.8:g.112207361C>T	NCBI36
NG_008481.4:g.156245C>T , LRG_130:g.156245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8225C>T	ENSP00000473355.2:p.Ser2742Phe
ENST00000505350.2:c.*8177C>T	ENSP00000481752.1:n.*8177C>T
ENST00000507379.6:c.8117C>T	ENSP00000423224.2:p.Ser2706Phe
ENST00000509732.6:c.8171C>T	ENSP00000426541.2:p.Ser2724Phe
ENST00000512211.7:c.8171C>T	ENSP00000423828.3:p.Ser2724Phe
ENST00000257430.9:c.8171C>T MANE Select	ENSP00000257430.4:p.Ser2724Phe
ENST00000257430.8:c.8171C>T	ENSP00000257430.4:p.Ser2724Phe
ENST00000508376.6:c.8171C>T	ENSP00000427089.2:p.Ser2724Phe
ENST00000520401.1:c.231-12884C>T
NM_000038.5:c.8171C>T	NP_000029.2:p.Ser2724Phe
NM_001127510.2:c.8171C>T	NP_001120982.1:p.Ser2724Phe
NM_001127511.2:c.8117C>T	NP_001120983.2:p.Ser2706Phe
NM_001354895.1:c.8171C>T	NP_001341824.1:p.Ser2724Phe
NM_001354896.1:c.8225C>T	NP_001341825.1:p.Ser2742Phe
NM_001354897.1:c.8201C>T	NP_001341826.1:p.Ser2734Phe
NM_001354898.1:c.8096C>T	NP_001341827.1:p.Ser2699Phe
NM_001354899.1:c.8087C>T	NP_001341828.1:p.Ser2696Phe
NM_001354900.1:c.8048C>T	NP_001341829.1:p.Ser2683Phe
NM_001354901.1:c.7994C>T	NP_001341830.1:p.Ser2665Phe
NM_001354902.1:c.7898C>T	NP_001341831.1:p.Ser2633Phe
NM_001354903.1:c.7868C>T	NP_001341832.1:p.Ser2623Phe
NM_001354904.1:c.7793C>T	NP_001341833.1:p.Ser2598Phe
NM_001354905.1:c.7691C>T	NP_001341834.1:p.Ser2564Phe
NM_001354906.1:c.7322C>T	NP_001341835.1:p.Ser2441Phe
NM_000038.6:c.8171C>T MANE Select	NP_000029.2:p.Ser2724Phe
NM_001127510.3:c.8171C>T	NP_001120982.1:p.Ser2724Phe
NM_001127511.3:c.8117C>T	NP_001120983.2:p.Ser2706Phe
NM_001354895.2:c.8171C>T	NP_001341824.1:p.Ser2724Phe
NM_001354896.2:c.8225C>T	NP_001341825.1:p.Ser2742Phe
NM_001354897.2:c.8201C>T	NP_001341826.1:p.Ser2734Phe
NM_001354898.2:c.8096C>T	NP_001341827.1:p.Ser2699Phe
NM_001354899.2:c.8087C>T	NP_001341828.1:p.Ser2696Phe
NM_001354900.2:c.8048C>T	NP_001341829.1:p.Ser2683Phe
NM_001354901.2:c.7994C>T	NP_001341830.1:p.Ser2665Phe
NM_001354902.2:c.7898C>T	NP_001341831.1:p.Ser2633Phe
NM_001354903.2:c.7868C>T	NP_001341832.1:p.Ser2623Phe
NM_001354904.2:c.7793C>T	NP_001341833.1:p.Ser2598Phe
NM_001354905.2:c.7691C>T	NP_001341834.1:p.Ser2564Phe
NM_001354906.2:c.7322C>T	NP_001341835.1:p.Ser2441Phe