Canonical Allele Identifier: CA16025234

Gene: APC

Linked Data

• dbSNP Id: rs1210985696
• MyVariant Identifiers: chr5:g.112170694C>G (hg19) ; chr5:g.112834997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834997C>G , CM000667.2:g.112834997C>G	GRCh38
NC_000005.9:g.112170694C>G , CM000667.1:g.112170694C>G	GRCh37
NC_000005.8:g.112198593C>G	NCBI36
NG_008481.4:g.147477C>G , LRG_130:g.147477C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1455C>G	ENSP00000484935.2:p.Ser485Arg
ENST00000504915.3:c.1844C>G	ENSP00000473355.2:p.Ala615Gly
ENST00000505350.2:c.*1796C>G	ENSP00000481752.1:n.*1796C>G
ENST00000507379.6:c.1736C>G	ENSP00000423224.2:p.Ala579Gly
ENST00000509732.6:c.1790C>G	ENSP00000426541.2:p.Ala597Gly
ENST00000512211.7:c.1790C>G	ENSP00000423828.3:p.Ala597Gly
ENST00000257430.9:c.1790C>G MANE Select	ENSP00000257430.4:p.Ala597Gly
ENST00000257430.8:c.1790C>G	ENSP00000257430.4:p.Ala597Gly
ENST00000502371.2:c.143C>G
ENST00000504915.2:c.479C>G	ENSP00000473355.1:p.Ala160Gly
ENST00000507379.5:c.1736C>G	ENSP00000423224.1:p.Ala579Gly
ENST00000508376.6:c.1790C>G	ENSP00000427089.2:p.Ala597Gly
ENST00000508624.5:c.*1112C>G	ENSP00000424265.1:n.*1112C>G
ENST00000512211.6:c.1790C>G	ENSP00000423828.2:p.Ala597Gly
ENST00000520401.1:c.230+6025C>G
NM_000038.5:c.1790C>G	NP_000029.2:p.Ala597Gly
NM_001127510.2:c.1790C>G	NP_001120982.1:p.Ala597Gly
NM_001127511.2:c.1736C>G	NP_001120983.2:p.Ala579Gly
NM_001354895.1:c.1790C>G	NP_001341824.1:p.Ala597Gly
NM_001354896.1:c.1844C>G	NP_001341825.1:p.Ala615Gly
NM_001354897.1:c.1820C>G	NP_001341826.1:p.Ala607Gly
NM_001354898.1:c.1715C>G	NP_001341827.1:p.Ala572Gly
NM_001354899.1:c.1706C>G	NP_001341828.1:p.Ala569Gly
NM_001354900.1:c.1667C>G	NP_001341829.1:p.Ala556Gly
NM_001354901.1:c.1613C>G	NP_001341830.1:p.Ala538Gly
NM_001354902.1:c.1517C>G	NP_001341831.1:p.Ala506Gly
NM_001354903.1:c.1487C>G	NP_001341832.1:p.Ala496Gly
NM_001354904.1:c.1412C>G	NP_001341833.1:p.Ala471Gly
NM_001354905.1:c.1310C>G	NP_001341834.1:p.Ala437Gly
NM_001354906.1:c.941C>G	NP_001341835.1:p.Ala314Gly
NM_000038.6:c.1790C>G MANE Select	NP_000029.2:p.Ala597Gly
NM_001127510.3:c.1790C>G	NP_001120982.1:p.Ala597Gly
NM_001127511.3:c.1736C>G	NP_001120983.2:p.Ala579Gly
NM_001354895.2:c.1790C>G	NP_001341824.1:p.Ala597Gly
NM_001354896.2:c.1844C>G	NP_001341825.1:p.Ala615Gly
NM_001354897.2:c.1820C>G	NP_001341826.1:p.Ala607Gly
NM_001354898.2:c.1715C>G	NP_001341827.1:p.Ala572Gly
NM_001354899.2:c.1706C>G	NP_001341828.1:p.Ala569Gly
NM_001354900.2:c.1667C>G	NP_001341829.1:p.Ala556Gly
NM_001354901.2:c.1613C>G	NP_001341830.1:p.Ala538Gly
NM_001354902.2:c.1517C>G	NP_001341831.1:p.Ala506Gly
NM_001354903.2:c.1487C>G	NP_001341832.1:p.Ala496Gly
NM_001354904.2:c.1412C>G	NP_001341833.1:p.Ala471Gly
NM_001354905.2:c.1310C>G	NP_001341834.1:p.Ala437Gly
NM_001354906.2:c.941C>G	NP_001341835.1:p.Ala314Gly