Canonical Allele Identifier: CA16028058

Gene: APC

Linked Data

• ClinVar Variation Id: 2866101
• ClinVar RCV Id: RCV003743258
• dbSNP Id: rs2149883688
• MyVariant Identifiers: chr5:g.112174362C>A (hg19) ; chr5:g.112838665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838665C>A , CM000667.2:g.112838665C>A	GRCh38
NC_000005.9:g.112174362C>A , CM000667.1:g.112174362C>A	GRCh37
NC_000005.8:g.112202261C>A	NCBI36
NG_008481.4:g.151145C>A , LRG_130:g.151145C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2736C>A	ENSP00000484935.2:n.2736C>A
ENST00000504915.3:c.3125C>A	ENSP00000473355.2:p.Pro1042Gln
ENST00000505350.2:c.*3077C>A	ENSP00000481752.1:n.*3077C>A
ENST00000507379.6:c.3017C>A	ENSP00000423224.2:p.Pro1006Gln
ENST00000509732.6:c.3071C>A	ENSP00000426541.2:p.Pro1024Gln
ENST00000512211.7:c.3071C>A	ENSP00000423828.3:p.Pro1024Gln
ENST00000257430.9:c.3071C>A MANE Select	ENSP00000257430.4:p.Pro1024Gln
ENST00000257430.8:c.3071C>A	ENSP00000257430.4:p.Pro1024Gln
ENST00000502371.2:c.1424C>A
ENST00000507379.5:c.3017C>A	ENSP00000423224.1:p.Pro1006Gln
ENST00000508376.6:c.3071C>A	ENSP00000427089.2:p.Pro1024Gln
ENST00000508624.5:c.*2393C>A	ENSP00000424265.1:n.*2393C>A
ENST00000512211.6:c.3071C>A	ENSP00000423828.2:p.Pro1024Gln
ENST00000520401.1:c.230+9693C>A
NM_000038.5:c.3071C>A	NP_000029.2:p.Pro1024Gln
NM_001127510.2:c.3071C>A	NP_001120982.1:p.Pro1024Gln
NM_001127511.2:c.3017C>A	NP_001120983.2:p.Pro1006Gln
NM_001354895.1:c.3071C>A	NP_001341824.1:p.Pro1024Gln
NM_001354896.1:c.3125C>A	NP_001341825.1:p.Pro1042Gln
NM_001354897.1:c.3101C>A	NP_001341826.1:p.Pro1034Gln
NM_001354898.1:c.2996C>A	NP_001341827.1:p.Pro999Gln
NM_001354899.1:c.2987C>A	NP_001341828.1:p.Pro996Gln
NM_001354900.1:c.2948C>A	NP_001341829.1:p.Pro983Gln
NM_001354901.1:c.2894C>A	NP_001341830.1:p.Pro965Gln
NM_001354902.1:c.2798C>A	NP_001341831.1:p.Pro933Gln
NM_001354903.1:c.2768C>A	NP_001341832.1:p.Pro923Gln
NM_001354904.1:c.2693C>A	NP_001341833.1:p.Pro898Gln
NM_001354905.1:c.2591C>A	NP_001341834.1:p.Pro864Gln
NM_001354906.1:c.2222C>A	NP_001341835.1:p.Pro741Gln
NM_000038.6:c.3071C>A MANE Select	NP_000029.2:p.Pro1024Gln
NM_001127510.3:c.3071C>A	NP_001120982.1:p.Pro1024Gln
NM_001127511.3:c.3017C>A	NP_001120983.2:p.Pro1006Gln
NM_001354895.2:c.3071C>A	NP_001341824.1:p.Pro1024Gln
NM_001354896.2:c.3125C>A	NP_001341825.1:p.Pro1042Gln
NM_001354897.2:c.3101C>A	NP_001341826.1:p.Pro1034Gln
NM_001354898.2:c.2996C>A	NP_001341827.1:p.Pro999Gln
NM_001354899.2:c.2987C>A	NP_001341828.1:p.Pro996Gln
NM_001354900.2:c.2948C>A	NP_001341829.1:p.Pro983Gln
NM_001354901.2:c.2894C>A	NP_001341830.1:p.Pro965Gln
NM_001354902.2:c.2798C>A	NP_001341831.1:p.Pro933Gln
NM_001354903.2:c.2768C>A	NP_001341832.1:p.Pro923Gln
NM_001354904.2:c.2693C>A	NP_001341833.1:p.Pro898Gln
NM_001354905.2:c.2591C>A	NP_001341834.1:p.Pro864Gln
NM_001354906.2:c.2222C>A	NP_001341835.1:p.Pro741Gln