Canonical Allele Identifier: CA16038727

Gene: APC

Linked Data

• ClinVar Variation Id: 1381000
• ClinVar RCV Id: RCV003164276 ; RCV003653508
• dbSNP Id: rs756875223
• gnomAD v4: 5-112843602-A-G
• MyVariant Identifiers: chr5:g.112179299A>G (hg19) ; chr5:g.112843602A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843602A>G , CM000667.2:g.112843602A>G	GRCh38
NC_000005.9:g.112179299A>G , CM000667.1:g.112179299A>G	GRCh37
NC_000005.8:g.112207198A>G	NCBI36
NG_008481.4:g.156082A>G , LRG_130:g.156082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8062A>G	ENSP00000473355.2:p.Arg2688Gly
ENST00000505350.2:c.*8014A>G	ENSP00000481752.1:n.*8014A>G
ENST00000507379.6:c.7954A>G	ENSP00000423224.2:p.Arg2652Gly
ENST00000509732.6:c.8008A>G	ENSP00000426541.2:p.Arg2670Gly
ENST00000512211.7:c.8008A>G	ENSP00000423828.3:p.Arg2670Gly
ENST00000257430.9:c.8008A>G MANE Select	ENSP00000257430.4:p.Arg2670Gly
ENST00000257430.8:c.8008A>G	ENSP00000257430.4:p.Arg2670Gly
ENST00000508376.6:c.8008A>G	ENSP00000427089.2:p.Arg2670Gly
ENST00000520401.1:c.231-13047A>G
NM_000038.5:c.8008A>G	NP_000029.2:p.Arg2670Gly
NM_001127510.2:c.8008A>G	NP_001120982.1:p.Arg2670Gly
NM_001127511.2:c.7954A>G	NP_001120983.2:p.Arg2652Gly
NM_001354895.1:c.8008A>G	NP_001341824.1:p.Arg2670Gly
NM_001354896.1:c.8062A>G	NP_001341825.1:p.Arg2688Gly
NM_001354897.1:c.8038A>G	NP_001341826.1:p.Arg2680Gly
NM_001354898.1:c.7933A>G	NP_001341827.1:p.Arg2645Gly
NM_001354899.1:c.7924A>G	NP_001341828.1:p.Arg2642Gly
NM_001354900.1:c.7885A>G	NP_001341829.1:p.Arg2629Gly
NM_001354901.1:c.7831A>G	NP_001341830.1:p.Arg2611Gly
NM_001354902.1:c.7735A>G	NP_001341831.1:p.Arg2579Gly
NM_001354903.1:c.7705A>G	NP_001341832.1:p.Arg2569Gly
NM_001354904.1:c.7630A>G	NP_001341833.1:p.Arg2544Gly
NM_001354905.1:c.7528A>G	NP_001341834.1:p.Arg2510Gly
NM_001354906.1:c.7159A>G	NP_001341835.1:p.Arg2387Gly
NM_000038.6:c.8008A>G MANE Select	NP_000029.2:p.Arg2670Gly
NM_001127510.3:c.8008A>G	NP_001120982.1:p.Arg2670Gly
NM_001127511.3:c.7954A>G	NP_001120983.2:p.Arg2652Gly
NM_001354895.2:c.8008A>G	NP_001341824.1:p.Arg2670Gly
NM_001354896.2:c.8062A>G	NP_001341825.1:p.Arg2688Gly
NM_001354897.2:c.8038A>G	NP_001341826.1:p.Arg2680Gly
NM_001354898.2:c.7933A>G	NP_001341827.1:p.Arg2645Gly
NM_001354899.2:c.7924A>G	NP_001341828.1:p.Arg2642Gly
NM_001354900.2:c.7885A>G	NP_001341829.1:p.Arg2629Gly
NM_001354901.2:c.7831A>G	NP_001341830.1:p.Arg2611Gly
NM_001354902.2:c.7735A>G	NP_001341831.1:p.Arg2579Gly
NM_001354903.2:c.7705A>G	NP_001341832.1:p.Arg2569Gly
NM_001354904.2:c.7630A>G	NP_001341833.1:p.Arg2544Gly
NM_001354905.2:c.7528A>G	NP_001341834.1:p.Arg2510Gly
NM_001354906.2:c.7159A>G	NP_001341835.1:p.Arg2387Gly