Canonical Allele Identifier: CA16032494

Gene: APC

Linked Data

• ClinVar Variation Id: 927485
• ClinVar RCV Id: RCV001190796 ; RCV001876233
• dbSNP Id: rs1765848297
• MyVariant Identifiers: chr5:g.112176398G>A (hg19) ; chr5:g.112840701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840701G>A , CM000667.2:g.112840701G>A	GRCh38
NC_000005.9:g.112176398G>A , CM000667.1:g.112176398G>A	GRCh37
NC_000005.8:g.112204297G>A	NCBI36
NG_008481.4:g.153181G>A , LRG_130:g.153181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5161G>A	ENSP00000473355.2:p.Gly1721Arg
ENST00000505350.2:c.*5113G>A	ENSP00000481752.1:n.*5113G>A
ENST00000507379.6:c.5053G>A	ENSP00000423224.2:p.Gly1685Arg
ENST00000509732.6:c.5107G>A	ENSP00000426541.2:p.Gly1703Arg
ENST00000512211.7:c.5107G>A	ENSP00000423828.3:p.Gly1703Arg
ENST00000257430.9:c.5107G>A MANE Select	ENSP00000257430.4:p.Gly1703Arg
ENST00000257430.8:c.5107G>A	ENSP00000257430.4:p.Gly1703Arg
ENST00000508376.6:c.5107G>A	ENSP00000427089.2:p.Gly1703Arg
ENST00000508624.5:c.*4429G>A	ENSP00000424265.1:n.*4429G>A
ENST00000520401.1:c.230+11729G>A
NM_000038.5:c.5107G>A	NP_000029.2:p.Gly1703Arg
NM_001127510.2:c.5107G>A	NP_001120982.1:p.Gly1703Arg
NM_001127511.2:c.5053G>A	NP_001120983.2:p.Gly1685Arg
NM_001354895.1:c.5107G>A	NP_001341824.1:p.Gly1703Arg
NM_001354896.1:c.5161G>A	NP_001341825.1:p.Gly1721Arg
NM_001354897.1:c.5137G>A	NP_001341826.1:p.Gly1713Arg
NM_001354898.1:c.5032G>A	NP_001341827.1:p.Gly1678Arg
NM_001354899.1:c.5023G>A	NP_001341828.1:p.Gly1675Arg
NM_001354900.1:c.4984G>A	NP_001341829.1:p.Gly1662Arg
NM_001354901.1:c.4930G>A	NP_001341830.1:p.Gly1644Arg
NM_001354902.1:c.4834G>A	NP_001341831.1:p.Gly1612Arg
NM_001354903.1:c.4804G>A	NP_001341832.1:p.Gly1602Arg
NM_001354904.1:c.4729G>A	NP_001341833.1:p.Gly1577Arg
NM_001354905.1:c.4627G>A	NP_001341834.1:p.Gly1543Arg
NM_001354906.1:c.4258G>A	NP_001341835.1:p.Gly1420Arg
NM_000038.6:c.5107G>A MANE Select	NP_000029.2:p.Gly1703Arg
NM_001127510.3:c.5107G>A	NP_001120982.1:p.Gly1703Arg
NM_001127511.3:c.5053G>A	NP_001120983.2:p.Gly1685Arg
NM_001354895.2:c.5107G>A	NP_001341824.1:p.Gly1703Arg
NM_001354896.2:c.5161G>A	NP_001341825.1:p.Gly1721Arg
NM_001354897.2:c.5137G>A	NP_001341826.1:p.Gly1713Arg
NM_001354898.2:c.5032G>A	NP_001341827.1:p.Gly1678Arg
NM_001354899.2:c.5023G>A	NP_001341828.1:p.Gly1675Arg
NM_001354900.2:c.4984G>A	NP_001341829.1:p.Gly1662Arg
NM_001354901.2:c.4930G>A	NP_001341830.1:p.Gly1644Arg
NM_001354902.2:c.4834G>A	NP_001341831.1:p.Gly1612Arg
NM_001354903.2:c.4804G>A	NP_001341832.1:p.Gly1602Arg
NM_001354904.2:c.4729G>A	NP_001341833.1:p.Gly1577Arg
NM_001354905.2:c.4627G>A	NP_001341834.1:p.Gly1543Arg
NM_001354906.2:c.4258G>A	NP_001341835.1:p.Gly1420Arg