Canonical Allele Identifier: CA16034606

Gene: APC

Linked Data

• ClinVar Variation Id: 470034
• ClinVar RCV Id: RCV003335472 ; RCV003742755
• dbSNP Id: rs1554087174
• MyVariant Identifiers: chr5:g.112177356C>G (hg19) ; chr5:g.112841659C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841659C>G , CM000667.2:g.112841659C>G	GRCh38
NC_000005.9:g.112177356C>G , CM000667.1:g.112177356C>G	GRCh37
NC_000005.8:g.112205255C>G	NCBI36
NG_008481.4:g.154139C>G , LRG_130:g.154139C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6119C>G	ENSP00000473355.2:p.Ser2040Ter
ENST00000505350.2:c.*6071C>G	ENSP00000481752.1:n.*6071C>G
ENST00000507379.6:c.6011C>G	ENSP00000423224.2:p.Ser2004Ter
ENST00000509732.6:c.6065C>G	ENSP00000426541.2:p.Ser2022Ter
ENST00000512211.7:c.6065C>G	ENSP00000423828.3:p.Ser2022Ter
ENST00000257430.9:c.6065C>G MANE Select	ENSP00000257430.4:p.Ser2022Ter
ENST00000257430.8:c.6065C>G	ENSP00000257430.4:p.Ser2022Ter
ENST00000508376.6:c.6065C>G	ENSP00000427089.2:p.Ser2022Ter
ENST00000508624.5:c.*5387C>G	ENSP00000424265.1:n.*5387C>G
ENST00000520401.1:c.230+12687C>G
NM_000038.5:c.6065C>G	NP_000029.2:p.Ser2022Ter
NM_001127510.2:c.6065C>G	NP_001120982.1:p.Ser2022Ter
NM_001127511.2:c.6011C>G	NP_001120983.2:p.Ser2004Ter
NM_001354895.1:c.6065C>G	NP_001341824.1:p.Ser2022Ter
NM_001354896.1:c.6119C>G	NP_001341825.1:p.Ser2040Ter
NM_001354897.1:c.6095C>G	NP_001341826.1:p.Ser2032Ter
NM_001354898.1:c.5990C>G	NP_001341827.1:p.Ser1997Ter
NM_001354899.1:c.5981C>G	NP_001341828.1:p.Ser1994Ter
NM_001354900.1:c.5942C>G	NP_001341829.1:p.Ser1981Ter
NM_001354901.1:c.5888C>G	NP_001341830.1:p.Ser1963Ter
NM_001354902.1:c.5792C>G	NP_001341831.1:p.Ser1931Ter
NM_001354903.1:c.5762C>G	NP_001341832.1:p.Ser1921Ter
NM_001354904.1:c.5687C>G	NP_001341833.1:p.Ser1896Ter
NM_001354905.1:c.5585C>G	NP_001341834.1:p.Ser1862Ter
NM_001354906.1:c.5216C>G	NP_001341835.1:p.Ser1739Ter
NM_000038.6:c.6065C>G MANE Select	NP_000029.2:p.Ser2022Ter
NM_001127510.3:c.6065C>G	NP_001120982.1:p.Ser2022Ter
NM_001127511.3:c.6011C>G	NP_001120983.2:p.Ser2004Ter
NM_001354895.2:c.6065C>G	NP_001341824.1:p.Ser2022Ter
NM_001354896.2:c.6119C>G	NP_001341825.1:p.Ser2040Ter
NM_001354897.2:c.6095C>G	NP_001341826.1:p.Ser2032Ter
NM_001354898.2:c.5990C>G	NP_001341827.1:p.Ser1997Ter
NM_001354899.2:c.5981C>G	NP_001341828.1:p.Ser1994Ter
NM_001354900.2:c.5942C>G	NP_001341829.1:p.Ser1981Ter
NM_001354901.2:c.5888C>G	NP_001341830.1:p.Ser1963Ter
NM_001354902.2:c.5792C>G	NP_001341831.1:p.Ser1931Ter
NM_001354903.2:c.5762C>G	NP_001341832.1:p.Ser1921Ter
NM_001354904.2:c.5687C>G	NP_001341833.1:p.Ser1896Ter
NM_001354905.2:c.5585C>G	NP_001341834.1:p.Ser1862Ter
NM_001354906.2:c.5216C>G	NP_001341835.1:p.Ser1739Ter