Canonical Allele Identifier: CA10578327

Gene: APC

Linked Data

• ClinVar Variation Id: 233973
• ClinVar RCV Id: RCV000217597 ; RCV000504287 ; RCV000584117 ; RCV002516171 ; RCV003650511
• dbSNP Id: rs876658355
• MyVariant Identifiers: chr5:g.112170770C>A (hg19) ; chr5:g.112835073C>A (hg38)
• PubMed: PMID:1316610 ; PMID:8187091 ; PMID:8381580 ; PMID:8990002 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835073C>A , CM000667.2:g.112835073C>A	GRCh38
NC_000005.9:g.112170770C>A , CM000667.1:g.112170770C>A	GRCh37
NC_000005.8:g.112198669C>A	NCBI36
NG_008481.4:g.147553C>A , LRG_130:g.147553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1531C>A	ENSP00000484935.2:n.1531C>A
ENST00000504915.3:c.1920C>A	ENSP00000473355.2:p.Tyr640Ter
ENST00000505350.2:c.*1872C>A	ENSP00000481752.1:n.*1872C>A
ENST00000507379.6:c.1812C>A	ENSP00000423224.2:p.Tyr604Ter
ENST00000509732.6:c.1866C>A	ENSP00000426541.2:p.Tyr622Ter
ENST00000512211.7:c.1866C>A	ENSP00000423828.3:p.Tyr622Ter
ENST00000257430.9:c.1866C>A MANE Select	ENSP00000257430.4:p.Tyr622Ter
ENST00000257430.8:c.1866C>A	ENSP00000257430.4:p.Tyr622Ter
ENST00000502371.2:c.219C>A
ENST00000504915.2:c.555C>A	ENSP00000473355.1:p.Tyr185Ter
ENST00000507379.5:c.1812C>A	ENSP00000423224.1:p.Tyr604Ter
ENST00000508376.6:c.1866C>A	ENSP00000427089.2:p.Tyr622Ter
ENST00000508624.5:c.*1188C>A	ENSP00000424265.1:n.*1188C>A
ENST00000512211.6:c.1866C>A	ENSP00000423828.2:p.Tyr622Ter
ENST00000520401.1:c.230+6101C>A
NM_000038.5:c.1866C>A	NP_000029.2:p.Tyr622Ter
NM_001127510.2:c.1866C>A	NP_001120982.1:p.Tyr622Ter
NM_001127511.2:c.1812C>A	NP_001120983.2:p.Tyr604Ter
NM_001354895.1:c.1866C>A	NP_001341824.1:p.Tyr622Ter
NM_001354896.1:c.1920C>A	NP_001341825.1:p.Tyr640Ter
NM_001354897.1:c.1896C>A	NP_001341826.1:p.Tyr632Ter
NM_001354898.1:c.1791C>A	NP_001341827.1:p.Tyr597Ter
NM_001354899.1:c.1782C>A	NP_001341828.1:p.Tyr594Ter
NM_001354900.1:c.1743C>A	NP_001341829.1:p.Tyr581Ter
NM_001354901.1:c.1689C>A	NP_001341830.1:p.Tyr563Ter
NM_001354902.1:c.1593C>A	NP_001341831.1:p.Tyr531Ter
NM_001354903.1:c.1563C>A	NP_001341832.1:p.Tyr521Ter
NM_001354904.1:c.1488C>A	NP_001341833.1:p.Tyr496Ter
NM_001354905.1:c.1386C>A	NP_001341834.1:p.Tyr462Ter
NM_001354906.1:c.1017C>A	NP_001341835.1:p.Tyr339Ter
NM_000038.6:c.1866C>A MANE Select	NP_000029.2:p.Tyr622Ter
NM_001127510.3:c.1866C>A	NP_001120982.1:p.Tyr622Ter
NM_001127511.3:c.1812C>A	NP_001120983.2:p.Tyr604Ter
NM_001354895.2:c.1866C>A	NP_001341824.1:p.Tyr622Ter
NM_001354896.2:c.1920C>A	NP_001341825.1:p.Tyr640Ter
NM_001354897.2:c.1896C>A	NP_001341826.1:p.Tyr632Ter
NM_001354898.2:c.1791C>A	NP_001341827.1:p.Tyr597Ter
NM_001354899.2:c.1782C>A	NP_001341828.1:p.Tyr594Ter
NM_001354900.2:c.1743C>A	NP_001341829.1:p.Tyr581Ter
NM_001354901.2:c.1689C>A	NP_001341830.1:p.Tyr563Ter
NM_001354902.2:c.1593C>A	NP_001341831.1:p.Tyr531Ter
NM_001354903.2:c.1563C>A	NP_001341832.1:p.Tyr521Ter
NM_001354904.2:c.1488C>A	NP_001341833.1:p.Tyr496Ter
NM_001354905.2:c.1386C>A	NP_001341834.1:p.Tyr462Ter
NM_001354906.2:c.1017C>A	NP_001341835.1:p.Tyr339Ter