Canonical Allele Identifier: CA16038114

Gene: APC

Linked Data

• ClinVar Variation Id: 1760336
• ClinVar RCV Id: RCV002400712
• dbSNP Id: rs1766549461
• MyVariant Identifiers: chr5:g.112179020T>A (hg19) ; chr5:g.112843323T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843323T>A , CM000667.2:g.112843323T>A	GRCh38
NC_000005.9:g.112179020T>A , CM000667.1:g.112179020T>A	GRCh37
NC_000005.8:g.112206919T>A	NCBI36
NG_008481.4:g.155803T>A , LRG_130:g.155803T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7783T>A	ENSP00000473355.2:p.Ser2595Thr
ENST00000505350.2:c.*7735T>A	ENSP00000481752.1:n.*7735T>A
ENST00000507379.6:c.7675T>A	ENSP00000423224.2:p.Ser2559Thr
ENST00000509732.6:c.7729T>A	ENSP00000426541.2:p.Ser2577Thr
ENST00000512211.7:c.7729T>A	ENSP00000423828.3:p.Ser2577Thr
ENST00000257430.9:c.7729T>A MANE Select	ENSP00000257430.4:p.Ser2577Thr
ENST00000257430.8:c.7729T>A	ENSP00000257430.4:p.Ser2577Thr
ENST00000508376.6:c.7729T>A	ENSP00000427089.2:p.Ser2577Thr
ENST00000520401.1:c.231-13326T>A
NM_000038.5:c.7729T>A	NP_000029.2:p.Ser2577Thr
NM_001127510.2:c.7729T>A	NP_001120982.1:p.Ser2577Thr
NM_001127511.2:c.7675T>A	NP_001120983.2:p.Ser2559Thr
NM_001354895.1:c.7729T>A	NP_001341824.1:p.Ser2577Thr
NM_001354896.1:c.7783T>A	NP_001341825.1:p.Ser2595Thr
NM_001354897.1:c.7759T>A	NP_001341826.1:p.Ser2587Thr
NM_001354898.1:c.7654T>A	NP_001341827.1:p.Ser2552Thr
NM_001354899.1:c.7645T>A	NP_001341828.1:p.Ser2549Thr
NM_001354900.1:c.7606T>A	NP_001341829.1:p.Ser2536Thr
NM_001354901.1:c.7552T>A	NP_001341830.1:p.Ser2518Thr
NM_001354902.1:c.7456T>A	NP_001341831.1:p.Ser2486Thr
NM_001354903.1:c.7426T>A	NP_001341832.1:p.Ser2476Thr
NM_001354904.1:c.7351T>A	NP_001341833.1:p.Ser2451Thr
NM_001354905.1:c.7249T>A	NP_001341834.1:p.Ser2417Thr
NM_001354906.1:c.6880T>A	NP_001341835.1:p.Ser2294Thr
NM_000038.6:c.7729T>A MANE Select	NP_000029.2:p.Ser2577Thr
NM_001127510.3:c.7729T>A	NP_001120982.1:p.Ser2577Thr
NM_001127511.3:c.7675T>A	NP_001120983.2:p.Ser2559Thr
NM_001354895.2:c.7729T>A	NP_001341824.1:p.Ser2577Thr
NM_001354896.2:c.7783T>A	NP_001341825.1:p.Ser2595Thr
NM_001354897.2:c.7759T>A	NP_001341826.1:p.Ser2587Thr
NM_001354898.2:c.7654T>A	NP_001341827.1:p.Ser2552Thr
NM_001354899.2:c.7645T>A	NP_001341828.1:p.Ser2549Thr
NM_001354900.2:c.7606T>A	NP_001341829.1:p.Ser2536Thr
NM_001354901.2:c.7552T>A	NP_001341830.1:p.Ser2518Thr
NM_001354902.2:c.7456T>A	NP_001341831.1:p.Ser2486Thr
NM_001354903.2:c.7426T>A	NP_001341832.1:p.Ser2476Thr
NM_001354904.2:c.7351T>A	NP_001341833.1:p.Ser2451Thr
NM_001354905.2:c.7249T>A	NP_001341834.1:p.Ser2417Thr
NM_001354906.2:c.6880T>A	NP_001341835.1:p.Ser2294Thr