Canonical Allele Identifier: CA16022857

Gene: APC

Linked Data

• ClinVar Variation Id: 470070
• ClinVar RCV Id: RCV000563146 ; RCV003742775 ; RCV003330781 ; RCV002527857
• dbSNP Id: rs1554074772
• MyVariant Identifiers: chr5:g.112128194C>T (hg19) ; chr5:g.112792497C>T (hg38)
• PubMed: PMID:7853377 ; PMID:9950360

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112792497C>T , CM000667.2:g.112792497C>T	GRCh38
NC_000005.9:g.112128194C>T , CM000667.1:g.112128194C>T	GRCh37
NC_000005.8:g.112156093C>T	NCBI36
NG_008481.4:g.104977C>T , LRG_130:g.104977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.697C>T	ENSP00000484935.2:p.Gln233Ter
ENST00000504915.3:c.697C>T	ENSP00000473355.2:p.Gln233Ter
ENST00000505084.2:n.753C>T
ENST00000505350.2:c.*703C>T	ENSP00000481752.1:n.*703C>T
ENST00000507379.6:c.676-8782C>T	ENSP00000423224.2:n.676-8782C>T
ENST00000509732.6:c.697C>T	ENSP00000426541.2:p.Gln233Ter
ENST00000512211.7:c.697C>T	ENSP00000423828.3:p.Gln233Ter
ENST00000257430.9:c.697C>T MANE Select	ENSP00000257430.4:p.Gln233Ter
ENST00000257430.8:c.697C>T	ENSP00000257430.4:p.Gln233Ter
ENST00000507379.5:c.676-8782C>T	ENSP00000423224.1:n.676-8782C>T
ENST00000508376.6:c.697C>T	ENSP00000427089.2:p.Gln233Ter
ENST00000508624.5:c.697C>T	ENSP00000424265.1:p.Gln233Ter
ENST00000512211.6:c.697C>T	ENSP00000423828.2:p.Gln233Ter
NM_000038.5:c.697C>T	NP_000029.2:p.Gln233Ter
NM_001127510.2:c.697C>T	NP_001120982.1:p.Gln233Ter
NM_001127511.2:c.676-8782C>T	NP_001120983.2:n.676-8782C>T
NM_001354895.1:c.697C>T	NP_001341824.1:p.Gln233Ter
NM_001354896.1:c.697C>T	NP_001341825.1:p.Gln233Ter
NM_001354897.1:c.727C>T	NP_001341826.1:p.Gln243Ter
NM_001354898.1:c.622C>T	NP_001341827.1:p.Gln208Ter
NM_001354899.1:c.646-8782C>T	NP_001341828.1:n.646-8782C>T
NM_001354900.1:c.520C>T	NP_001341829.1:p.Gln174Ter
NM_001354901.1:c.520C>T	NP_001341830.1:p.Gln174Ter
NM_001354902.1:c.727C>T	NP_001341831.1:p.Gln243Ter
NM_001354903.1:c.697C>T	NP_001341832.1:p.Gln233Ter
NM_001354904.1:c.622C>T	NP_001341833.1:p.Gln208Ter
NM_001354905.1:c.520C>T	NP_001341834.1:p.Gln174Ter
NM_001354906.1:c.-339C>T	NP_001341835.1:n.-339C>T
NM_000038.6:c.697C>T MANE Select	NP_000029.2:p.Gln233Ter
NM_001127510.3:c.697C>T	NP_001120982.1:p.Gln233Ter
NM_001127511.3:c.676-8782C>T	NP_001120983.2:n.676-8782C>T
NM_001354895.2:c.697C>T	NP_001341824.1:p.Gln233Ter
NM_001354896.2:c.697C>T	NP_001341825.1:p.Gln233Ter
NM_001354897.2:c.727C>T	NP_001341826.1:p.Gln243Ter
NM_001354898.2:c.622C>T	NP_001341827.1:p.Gln208Ter
NM_001354899.2:c.646-8782C>T	NP_001341828.1:n.646-8782C>T
NM_001354900.2:c.520C>T	NP_001341829.1:p.Gln174Ter
NM_001354901.2:c.520C>T	NP_001341830.1:p.Gln174Ter
NM_001354902.2:c.727C>T	NP_001341831.1:p.Gln243Ter
NM_001354903.2:c.697C>T	NP_001341832.1:p.Gln233Ter
NM_001354904.2:c.622C>T	NP_001341833.1:p.Gln208Ter
NM_001354905.2:c.520C>T	NP_001341834.1:p.Gln174Ter
NM_001354906.2:c.-339C>T	NP_001341835.1:n.-339C>T