Canonical Allele Identifier: CA16032919

Gene: APC

Linked Data

• ClinVar Variation Id: 936379
• ClinVar RCV Id: RCV002348668 ; RCV003650670
• dbSNP Id: rs1064796537
• MyVariant Identifiers: chr5:g.112176591G>C (hg19) ; chr5:g.112840894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840894G>C , CM000667.2:g.112840894G>C	GRCh38
NC_000005.9:g.112176591G>C , CM000667.1:g.112176591G>C	GRCh37
NC_000005.8:g.112204490G>C	NCBI36
NG_008481.4:g.153374G>C , LRG_130:g.153374G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5354G>C	ENSP00000473355.2:p.Gly1785Ala
ENST00000505350.2:c.*5306G>C	ENSP00000481752.1:n.*5306G>C
ENST00000507379.6:c.5246G>C	ENSP00000423224.2:p.Gly1749Ala
ENST00000509732.6:c.5300G>C	ENSP00000426541.2:p.Gly1767Ala
ENST00000512211.7:c.5300G>C	ENSP00000423828.3:p.Gly1767Ala
ENST00000257430.9:c.5300G>C MANE Select	ENSP00000257430.4:p.Gly1767Ala
ENST00000257430.8:c.5300G>C	ENSP00000257430.4:p.Gly1767Ala
ENST00000508376.6:c.5300G>C	ENSP00000427089.2:p.Gly1767Ala
ENST00000508624.5:c.*4622G>C	ENSP00000424265.1:n.*4622G>C
ENST00000520401.1:c.230+11922G>C
NM_000038.5:c.5300G>C	NP_000029.2:p.Gly1767Ala
NM_001127510.2:c.5300G>C	NP_001120982.1:p.Gly1767Ala
NM_001127511.2:c.5246G>C	NP_001120983.2:p.Gly1749Ala
NM_001354895.1:c.5300G>C	NP_001341824.1:p.Gly1767Ala
NM_001354896.1:c.5354G>C	NP_001341825.1:p.Gly1785Ala
NM_001354897.1:c.5330G>C	NP_001341826.1:p.Gly1777Ala
NM_001354898.1:c.5225G>C	NP_001341827.1:p.Gly1742Ala
NM_001354899.1:c.5216G>C	NP_001341828.1:p.Gly1739Ala
NM_001354900.1:c.5177G>C	NP_001341829.1:p.Gly1726Ala
NM_001354901.1:c.5123G>C	NP_001341830.1:p.Gly1708Ala
NM_001354902.1:c.5027G>C	NP_001341831.1:p.Gly1676Ala
NM_001354903.1:c.4997G>C	NP_001341832.1:p.Gly1666Ala
NM_001354904.1:c.4922G>C	NP_001341833.1:p.Gly1641Ala
NM_001354905.1:c.4820G>C	NP_001341834.1:p.Gly1607Ala
NM_001354906.1:c.4451G>C	NP_001341835.1:p.Gly1484Ala
NM_000038.6:c.5300G>C MANE Select	NP_000029.2:p.Gly1767Ala
NM_001127510.3:c.5300G>C	NP_001120982.1:p.Gly1767Ala
NM_001127511.3:c.5246G>C	NP_001120983.2:p.Gly1749Ala
NM_001354895.2:c.5300G>C	NP_001341824.1:p.Gly1767Ala
NM_001354896.2:c.5354G>C	NP_001341825.1:p.Gly1785Ala
NM_001354897.2:c.5330G>C	NP_001341826.1:p.Gly1777Ala
NM_001354898.2:c.5225G>C	NP_001341827.1:p.Gly1742Ala
NM_001354899.2:c.5216G>C	NP_001341828.1:p.Gly1739Ala
NM_001354900.2:c.5177G>C	NP_001341829.1:p.Gly1726Ala
NM_001354901.2:c.5123G>C	NP_001341830.1:p.Gly1708Ala
NM_001354902.2:c.5027G>C	NP_001341831.1:p.Gly1676Ala
NM_001354903.2:c.4997G>C	NP_001341832.1:p.Gly1666Ala
NM_001354904.2:c.4922G>C	NP_001341833.1:p.Gly1641Ala
NM_001354905.2:c.4820G>C	NP_001341834.1:p.Gly1607Ala
NM_001354906.2:c.4451G>C	NP_001341835.1:p.Gly1484Ala