Canonical Allele Identifier: CA16025556

Gene: APC

Linked Data

• ClinVar Variation Id: 1783048
• ClinVar RCV Id: RCV002413175
• dbSNP Id: rs2149844262
• MyVariant Identifiers: chr5:g.112170844C>G (hg19) ; chr5:g.112835147C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835147C>G , CM000667.2:g.112835147C>G	GRCh38
NC_000005.9:g.112170844C>G , CM000667.1:g.112170844C>G	GRCh37
NC_000005.8:g.112198743C>G	NCBI36
NG_008481.4:g.147627C>G , LRG_130:g.147627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1605C>G	ENSP00000484935.2:n.1605C>G
ENST00000504915.3:c.1994C>G	ENSP00000473355.2:p.Ala665Gly
ENST00000505350.2:c.*1946C>G	ENSP00000481752.1:n.*1946C>G
ENST00000507379.6:c.1886C>G	ENSP00000423224.2:p.Ala629Gly
ENST00000509732.6:c.1940C>G	ENSP00000426541.2:p.Ala647Gly
ENST00000512211.7:c.1940C>G	ENSP00000423828.3:p.Ala647Gly
ENST00000257430.9:c.1940C>G MANE Select	ENSP00000257430.4:p.Ala647Gly
ENST00000257430.8:c.1940C>G	ENSP00000257430.4:p.Ala647Gly
ENST00000502371.2:c.293C>G
ENST00000504915.2:c.629C>G	ENSP00000473355.1:p.Ala210Gly
ENST00000507379.5:c.1886C>G	ENSP00000423224.1:p.Ala629Gly
ENST00000508376.6:c.1940C>G	ENSP00000427089.2:p.Ala647Gly
ENST00000508624.5:c.*1262C>G	ENSP00000424265.1:n.*1262C>G
ENST00000512211.6:c.1940C>G	ENSP00000423828.2:p.Ala647Gly
ENST00000520401.1:c.230+6175C>G
NM_000038.5:c.1940C>G	NP_000029.2:p.Ala647Gly
NM_001127510.2:c.1940C>G	NP_001120982.1:p.Ala647Gly
NM_001127511.2:c.1886C>G	NP_001120983.2:p.Ala629Gly
NM_001354895.1:c.1940C>G	NP_001341824.1:p.Ala647Gly
NM_001354896.1:c.1994C>G	NP_001341825.1:p.Ala665Gly
NM_001354897.1:c.1970C>G	NP_001341826.1:p.Ala657Gly
NM_001354898.1:c.1865C>G	NP_001341827.1:p.Ala622Gly
NM_001354899.1:c.1856C>G	NP_001341828.1:p.Ala619Gly
NM_001354900.1:c.1817C>G	NP_001341829.1:p.Ala606Gly
NM_001354901.1:c.1763C>G	NP_001341830.1:p.Ala588Gly
NM_001354902.1:c.1667C>G	NP_001341831.1:p.Ala556Gly
NM_001354903.1:c.1637C>G	NP_001341832.1:p.Ala546Gly
NM_001354904.1:c.1562C>G	NP_001341833.1:p.Ala521Gly
NM_001354905.1:c.1460C>G	NP_001341834.1:p.Ala487Gly
NM_001354906.1:c.1091C>G	NP_001341835.1:p.Ala364Gly
NM_000038.6:c.1940C>G MANE Select	NP_000029.2:p.Ala647Gly
NM_001127510.3:c.1940C>G	NP_001120982.1:p.Ala647Gly
NM_001127511.3:c.1886C>G	NP_001120983.2:p.Ala629Gly
NM_001354895.2:c.1940C>G	NP_001341824.1:p.Ala647Gly
NM_001354896.2:c.1994C>G	NP_001341825.1:p.Ala665Gly
NM_001354897.2:c.1970C>G	NP_001341826.1:p.Ala657Gly
NM_001354898.2:c.1865C>G	NP_001341827.1:p.Ala622Gly
NM_001354899.2:c.1856C>G	NP_001341828.1:p.Ala619Gly
NM_001354900.2:c.1817C>G	NP_001341829.1:p.Ala606Gly
NM_001354901.2:c.1763C>G	NP_001341830.1:p.Ala588Gly
NM_001354902.2:c.1667C>G	NP_001341831.1:p.Ala556Gly
NM_001354903.2:c.1637C>G	NP_001341832.1:p.Ala546Gly
NM_001354904.2:c.1562C>G	NP_001341833.1:p.Ala521Gly
NM_001354905.2:c.1460C>G	NP_001341834.1:p.Ala487Gly
NM_001354906.2:c.1091C>G	NP_001341835.1:p.Ala364Gly