Canonical Allele Identifier: CA16032800

Gene: APC

Linked Data

• ClinVar Variation Id: 954900
• ClinVar RCV Id: RCV001751441 ; RCV002562623 ; RCV003584863 ; RCV003650790
• dbSNP Id: rs1765893831
• MyVariant Identifiers: chr5:g.112176536C>G (hg19) ; chr5:g.112840839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840839C>G , CM000667.2:g.112840839C>G	GRCh38
NC_000005.9:g.112176536C>G , CM000667.1:g.112176536C>G	GRCh37
NC_000005.8:g.112204435C>G	NCBI36
NG_008481.4:g.153319C>G , LRG_130:g.153319C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5299C>G	ENSP00000473355.2:p.Gln1767Glu
ENST00000505350.2:c.*5251C>G	ENSP00000481752.1:n.*5251C>G
ENST00000507379.6:c.5191C>G	ENSP00000423224.2:p.Gln1731Glu
ENST00000509732.6:c.5245C>G	ENSP00000426541.2:p.Gln1749Glu
ENST00000512211.7:c.5245C>G	ENSP00000423828.3:p.Gln1749Glu
ENST00000257430.9:c.5245C>G MANE Select	ENSP00000257430.4:p.Gln1749Glu
ENST00000257430.8:c.5245C>G	ENSP00000257430.4:p.Gln1749Glu
ENST00000508376.6:c.5245C>G	ENSP00000427089.2:p.Gln1749Glu
ENST00000508624.5:c.*4567C>G	ENSP00000424265.1:n.*4567C>G
ENST00000520401.1:c.230+11867C>G
NM_000038.5:c.5245C>G	NP_000029.2:p.Gln1749Glu
NM_001127510.2:c.5245C>G	NP_001120982.1:p.Gln1749Glu
NM_001127511.2:c.5191C>G	NP_001120983.2:p.Gln1731Glu
NM_001354895.1:c.5245C>G	NP_001341824.1:p.Gln1749Glu
NM_001354896.1:c.5299C>G	NP_001341825.1:p.Gln1767Glu
NM_001354897.1:c.5275C>G	NP_001341826.1:p.Gln1759Glu
NM_001354898.1:c.5170C>G	NP_001341827.1:p.Gln1724Glu
NM_001354899.1:c.5161C>G	NP_001341828.1:p.Gln1721Glu
NM_001354900.1:c.5122C>G	NP_001341829.1:p.Gln1708Glu
NM_001354901.1:c.5068C>G	NP_001341830.1:p.Gln1690Glu
NM_001354902.1:c.4972C>G	NP_001341831.1:p.Gln1658Glu
NM_001354903.1:c.4942C>G	NP_001341832.1:p.Gln1648Glu
NM_001354904.1:c.4867C>G	NP_001341833.1:p.Gln1623Glu
NM_001354905.1:c.4765C>G	NP_001341834.1:p.Gln1589Glu
NM_001354906.1:c.4396C>G	NP_001341835.1:p.Gln1466Glu
NM_000038.6:c.5245C>G MANE Select	NP_000029.2:p.Gln1749Glu
NM_001127510.3:c.5245C>G	NP_001120982.1:p.Gln1749Glu
NM_001127511.3:c.5191C>G	NP_001120983.2:p.Gln1731Glu
NM_001354895.2:c.5245C>G	NP_001341824.1:p.Gln1749Glu
NM_001354896.2:c.5299C>G	NP_001341825.1:p.Gln1767Glu
NM_001354897.2:c.5275C>G	NP_001341826.1:p.Gln1759Glu
NM_001354898.2:c.5170C>G	NP_001341827.1:p.Gln1724Glu
NM_001354899.2:c.5161C>G	NP_001341828.1:p.Gln1721Glu
NM_001354900.2:c.5122C>G	NP_001341829.1:p.Gln1708Glu
NM_001354901.2:c.5068C>G	NP_001341830.1:p.Gln1690Glu
NM_001354902.2:c.4972C>G	NP_001341831.1:p.Gln1658Glu
NM_001354903.2:c.4942C>G	NP_001341832.1:p.Gln1648Glu
NM_001354904.2:c.4867C>G	NP_001341833.1:p.Gln1623Glu
NM_001354905.2:c.4765C>G	NP_001341834.1:p.Gln1589Glu
NM_001354906.2:c.4396C>G	NP_001341835.1:p.Gln1466Glu