Canonical Allele Identifier: CA16025238

Gene: APC

Linked Data

• dbSNP Id: rs2149841507
• COSMIC: COSM6475462
• MyVariant Identifiers: chr5:g.112170696C>T (hg19) ; chr5:g.112834999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834999C>T , CM000667.2:g.112834999C>T	GRCh38
NC_000005.9:g.112170696C>T , CM000667.1:g.112170696C>T	GRCh37
NC_000005.8:g.112198595C>T	NCBI36
NG_008481.4:g.147479C>T , LRG_130:g.147479C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1457C>T	ENSP00000484935.2:p.Thr486Ile
ENST00000504915.3:c.1846C>T	ENSP00000473355.2:p.His616Tyr
ENST00000505350.2:c.*1798C>T	ENSP00000481752.1:n.*1798C>T
ENST00000507379.6:c.1738C>T	ENSP00000423224.2:p.His580Tyr
ENST00000509732.6:c.1792C>T	ENSP00000426541.2:p.His598Tyr
ENST00000512211.7:c.1792C>T	ENSP00000423828.3:p.His598Tyr
ENST00000257430.9:c.1792C>T MANE Select	ENSP00000257430.4:p.His598Tyr
ENST00000257430.8:c.1792C>T	ENSP00000257430.4:p.His598Tyr
ENST00000502371.2:c.145C>T
ENST00000504915.2:c.481C>T	ENSP00000473355.1:p.His161Tyr
ENST00000507379.5:c.1738C>T	ENSP00000423224.1:p.His580Tyr
ENST00000508376.6:c.1792C>T	ENSP00000427089.2:p.His598Tyr
ENST00000508624.5:c.*1114C>T	ENSP00000424265.1:n.*1114C>T
ENST00000512211.6:c.1792C>T	ENSP00000423828.2:p.His598Tyr
ENST00000520401.1:c.230+6027C>T
NM_000038.5:c.1792C>T	NP_000029.2:p.His598Tyr
NM_001127510.2:c.1792C>T	NP_001120982.1:p.His598Tyr
NM_001127511.2:c.1738C>T	NP_001120983.2:p.His580Tyr
NM_001354895.1:c.1792C>T	NP_001341824.1:p.His598Tyr
NM_001354896.1:c.1846C>T	NP_001341825.1:p.His616Tyr
NM_001354897.1:c.1822C>T	NP_001341826.1:p.His608Tyr
NM_001354898.1:c.1717C>T	NP_001341827.1:p.His573Tyr
NM_001354899.1:c.1708C>T	NP_001341828.1:p.His570Tyr
NM_001354900.1:c.1669C>T	NP_001341829.1:p.His557Tyr
NM_001354901.1:c.1615C>T	NP_001341830.1:p.His539Tyr
NM_001354902.1:c.1519C>T	NP_001341831.1:p.His507Tyr
NM_001354903.1:c.1489C>T	NP_001341832.1:p.His497Tyr
NM_001354904.1:c.1414C>T	NP_001341833.1:p.His472Tyr
NM_001354905.1:c.1312C>T	NP_001341834.1:p.His438Tyr
NM_001354906.1:c.943C>T	NP_001341835.1:p.His315Tyr
NM_000038.6:c.1792C>T MANE Select	NP_000029.2:p.His598Tyr
NM_001127510.3:c.1792C>T	NP_001120982.1:p.His598Tyr
NM_001127511.3:c.1738C>T	NP_001120983.2:p.His580Tyr
NM_001354895.2:c.1792C>T	NP_001341824.1:p.His598Tyr
NM_001354896.2:c.1846C>T	NP_001341825.1:p.His616Tyr
NM_001354897.2:c.1822C>T	NP_001341826.1:p.His608Tyr
NM_001354898.2:c.1717C>T	NP_001341827.1:p.His573Tyr
NM_001354899.2:c.1708C>T	NP_001341828.1:p.His570Tyr
NM_001354900.2:c.1669C>T	NP_001341829.1:p.His557Tyr
NM_001354901.2:c.1615C>T	NP_001341830.1:p.His539Tyr
NM_001354902.2:c.1519C>T	NP_001341831.1:p.His507Tyr
NM_001354903.2:c.1489C>T	NP_001341832.1:p.His497Tyr
NM_001354904.2:c.1414C>T	NP_001341833.1:p.His472Tyr
NM_001354905.2:c.1312C>T	NP_001341834.1:p.His438Tyr
NM_001354906.2:c.943C>T	NP_001341835.1:p.His315Tyr