Canonical Allele Identifier: CA16034426

Gene: APC

Linked Data

• ClinVar Variation Id: 470028
• ClinVar RCV Id: RCV001189643 ; RCV003742749
• dbSNP Id: rs372852823
• MyVariant Identifiers: chr5:g.112177273C>A (hg19) ; chr5:g.112841576C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841576C>A , CM000667.2:g.112841576C>A	GRCh38
NC_000005.9:g.112177273C>A , CM000667.1:g.112177273C>A	GRCh37
NC_000005.8:g.112205172C>A	NCBI36
NG_008481.4:g.154056C>A , LRG_130:g.154056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6036C>A	ENSP00000473355.2:p.Asp2012Glu
ENST00000505350.2:c.*5988C>A	ENSP00000481752.1:n.*5988C>A
ENST00000507379.6:c.5928C>A	ENSP00000423224.2:p.Asp1976Glu
ENST00000509732.6:c.5982C>A	ENSP00000426541.2:p.Asp1994Glu
ENST00000512211.7:c.5982C>A	ENSP00000423828.3:p.Asp1994Glu
ENST00000257430.9:c.5982C>A MANE Select	ENSP00000257430.4:p.Asp1994Glu
ENST00000257430.8:c.5982C>A	ENSP00000257430.4:p.Asp1994Glu
ENST00000508376.6:c.5982C>A	ENSP00000427089.2:p.Asp1994Glu
ENST00000508624.5:c.*5304C>A	ENSP00000424265.1:n.*5304C>A
ENST00000520401.1:c.230+12604C>A
NM_000038.5:c.5982C>A	NP_000029.2:p.Asp1994Glu
NM_001127510.2:c.5982C>A	NP_001120982.1:p.Asp1994Glu
NM_001127511.2:c.5928C>A	NP_001120983.2:p.Asp1976Glu
NM_001354895.1:c.5982C>A	NP_001341824.1:p.Asp1994Glu
NM_001354896.1:c.6036C>A	NP_001341825.1:p.Asp2012Glu
NM_001354897.1:c.6012C>A	NP_001341826.1:p.Asp2004Glu
NM_001354898.1:c.5907C>A	NP_001341827.1:p.Asp1969Glu
NM_001354899.1:c.5898C>A	NP_001341828.1:p.Asp1966Glu
NM_001354900.1:c.5859C>A	NP_001341829.1:p.Asp1953Glu
NM_001354901.1:c.5805C>A	NP_001341830.1:p.Asp1935Glu
NM_001354902.1:c.5709C>A	NP_001341831.1:p.Asp1903Glu
NM_001354903.1:c.5679C>A	NP_001341832.1:p.Asp1893Glu
NM_001354904.1:c.5604C>A	NP_001341833.1:p.Asp1868Glu
NM_001354905.1:c.5502C>A	NP_001341834.1:p.Asp1834Glu
NM_001354906.1:c.5133C>A	NP_001341835.1:p.Asp1711Glu
NM_000038.6:c.5982C>A MANE Select	NP_000029.2:p.Asp1994Glu
NM_001127510.3:c.5982C>A	NP_001120982.1:p.Asp1994Glu
NM_001127511.3:c.5928C>A	NP_001120983.2:p.Asp1976Glu
NM_001354895.2:c.5982C>A	NP_001341824.1:p.Asp1994Glu
NM_001354896.2:c.6036C>A	NP_001341825.1:p.Asp2012Glu
NM_001354897.2:c.6012C>A	NP_001341826.1:p.Asp2004Glu
NM_001354898.2:c.5907C>A	NP_001341827.1:p.Asp1969Glu
NM_001354899.2:c.5898C>A	NP_001341828.1:p.Asp1966Glu
NM_001354900.2:c.5859C>A	NP_001341829.1:p.Asp1953Glu
NM_001354901.2:c.5805C>A	NP_001341830.1:p.Asp1935Glu
NM_001354902.2:c.5709C>A	NP_001341831.1:p.Asp1903Glu
NM_001354903.2:c.5679C>A	NP_001341832.1:p.Asp1893Glu
NM_001354904.2:c.5604C>A	NP_001341833.1:p.Asp1868Glu
NM_001354905.2:c.5502C>A	NP_001341834.1:p.Asp1834Glu
NM_001354906.2:c.5133C>A	NP_001341835.1:p.Asp1711Glu