Canonical Allele Identifier: CA445755707

Gene: APC

Linked Data

• ClinVar Variation Id: 3148063
• ClinVar RCV Id: RCV004439964
• MyVariant Identifiers: chr5:g.112151254T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815557T>G , CM000667.2:g.112815557T>G	GRCh38
NC_000005.9:g.112151254T>G , CM000667.1:g.112151254T>G	GRCh37
NC_000005.8:g.112179153T>G	NCBI36
NG_008481.4:g.128037T>G , LRG_130:g.128037T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.897T>G	ENSP00000484935.2:p.Ser299=
ENST00000504915.3:c.897T>G	ENSP00000473355.2:p.Ser299=
ENST00000505084.2:n.953T>G
ENST00000505350.2:c.*903T>G	ENSP00000481752.1:n.*903T>G
ENST00000507379.6:c.843T>G	ENSP00000423224.2:p.Ser281=
ENST00000509732.6:c.897T>G	ENSP00000426541.2:p.Ser299=
ENST00000512211.7:c.897T>G	ENSP00000423828.3:p.Ser299=
ENST00000257430.9:c.897T>G MANE Select	ENSP00000257430.4:p.Ser299=
ENST00000257430.8:c.897T>G	ENSP00000257430.4:p.Ser299=
ENST00000507379.5:c.843T>G	ENSP00000423224.1:p.Ser281=
ENST00000508376.6:c.897T>G	ENSP00000427089.2:p.Ser299=
ENST00000508624.5:c.*219T>G	ENSP00000424265.1:n.*219T>G
ENST00000512211.6:c.897T>G	ENSP00000423828.2:p.Ser299=
NM_000038.5:c.897T>G	NP_000029.2:p.Ser299=
NM_001127510.2:c.897T>G	NP_001120982.1:p.Ser299=
NM_001127511.2:c.843T>G	NP_001120983.2:p.Ser281=
NM_001354895.1:c.897T>G	NP_001341824.1:p.Ser299=
NM_001354896.1:c.897T>G	NP_001341825.1:p.Ser299=
NM_001354897.1:c.927T>G	NP_001341826.1:p.Ser309=
NM_001354898.1:c.822T>G	NP_001341827.1:p.Ser274=
NM_001354899.1:c.813T>G	NP_001341828.1:p.Ser271=
NM_001354900.1:c.720T>G	NP_001341829.1:p.Ser240=
NM_001354901.1:c.720T>G	NP_001341830.1:p.Ser240=
NM_001354902.1:c.927T>G	NP_001341831.1:p.Ser309=
NM_001354903.1:c.897T>G	NP_001341832.1:p.Ser299=
NM_001354904.1:c.822T>G	NP_001341833.1:p.Ser274=
NM_001354905.1:c.720T>G	NP_001341834.1:p.Ser240=
NM_001354906.1:c.48T>G	NP_001341835.1:p.Ser16=
NM_000038.6:c.897T>G MANE Select	NP_000029.2:p.Ser299=
NM_001127510.3:c.897T>G	NP_001120982.1:p.Ser299=
NM_001127511.3:c.843T>G	NP_001120983.2:p.Ser281=
NM_001354895.2:c.897T>G	NP_001341824.1:p.Ser299=
NM_001354896.2:c.897T>G	NP_001341825.1:p.Ser299=
NM_001354897.2:c.927T>G	NP_001341826.1:p.Ser309=
NM_001354898.2:c.822T>G	NP_001341827.1:p.Ser274=
NM_001354899.2:c.813T>G	NP_001341828.1:p.Ser271=
NM_001354900.2:c.720T>G	NP_001341829.1:p.Ser240=
NM_001354901.2:c.720T>G	NP_001341830.1:p.Ser240=
NM_001354902.2:c.927T>G	NP_001341831.1:p.Ser309=
NM_001354903.2:c.897T>G	NP_001341832.1:p.Ser299=
NM_001354904.2:c.822T>G	NP_001341833.1:p.Ser274=
NM_001354905.2:c.720T>G	NP_001341834.1:p.Ser240=
NM_001354906.2:c.48T>G	NP_001341835.1:p.Ser16=