Canonical Allele Identifier: CA446211110

Gene: APC

Linked Data

• ClinVar Variation Id: 1759985
• ClinVar RCV Id: RCV002396403
• dbSNP Id: rs2149991270
• MyVariant Identifiers: chr5:g.112178941G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843244G>A , CM000667.2:g.112843244G>A	GRCh38
NC_000005.9:g.112178941G>A , CM000667.1:g.112178941G>A	GRCh37
NC_000005.8:g.112206840G>A	NCBI36
NG_008481.4:g.155724G>A , LRG_130:g.155724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7704G>A	ENSP00000473355.2:p.Glu2568=
ENST00000505350.2:c.*7656G>A	ENSP00000481752.1:n.*7656G>A
ENST00000507379.6:c.7596G>A	ENSP00000423224.2:p.Glu2532=
ENST00000509732.6:c.7650G>A	ENSP00000426541.2:p.Glu2550=
ENST00000512211.7:c.7650G>A	ENSP00000423828.3:p.Glu2550=
ENST00000257430.9:c.7650G>A MANE Select	ENSP00000257430.4:p.Glu2550=
ENST00000257430.8:c.7650G>A	ENSP00000257430.4:p.Glu2550=
ENST00000508376.6:c.7650G>A	ENSP00000427089.2:p.Glu2550=
ENST00000520401.1:c.231-13405G>A
NM_000038.5:c.7650G>A	NP_000029.2:p.Glu2550=
NM_001127510.2:c.7650G>A	NP_001120982.1:p.Glu2550=
NM_001127511.2:c.7596G>A	NP_001120983.2:p.Glu2532=
NM_001354895.1:c.7650G>A	NP_001341824.1:p.Glu2550=
NM_001354896.1:c.7704G>A	NP_001341825.1:p.Glu2568=
NM_001354897.1:c.7680G>A	NP_001341826.1:p.Glu2560=
NM_001354898.1:c.7575G>A	NP_001341827.1:p.Glu2525=
NM_001354899.1:c.7566G>A	NP_001341828.1:p.Glu2522=
NM_001354900.1:c.7527G>A	NP_001341829.1:p.Glu2509=
NM_001354901.1:c.7473G>A	NP_001341830.1:p.Glu2491=
NM_001354902.1:c.7377G>A	NP_001341831.1:p.Glu2459=
NM_001354903.1:c.7347G>A	NP_001341832.1:p.Glu2449=
NM_001354904.1:c.7272G>A	NP_001341833.1:p.Glu2424=
NM_001354905.1:c.7170G>A	NP_001341834.1:p.Glu2390=
NM_001354906.1:c.6801G>A	NP_001341835.1:p.Glu2267=
NM_000038.6:c.7650G>A MANE Select	NP_000029.2:p.Glu2550=
NM_001127510.3:c.7650G>A	NP_001120982.1:p.Glu2550=
NM_001127511.3:c.7596G>A	NP_001120983.2:p.Glu2532=
NM_001354895.2:c.7650G>A	NP_001341824.1:p.Glu2550=
NM_001354896.2:c.7704G>A	NP_001341825.1:p.Glu2568=
NM_001354897.2:c.7680G>A	NP_001341826.1:p.Glu2560=
NM_001354898.2:c.7575G>A	NP_001341827.1:p.Glu2525=
NM_001354899.2:c.7566G>A	NP_001341828.1:p.Glu2522=
NM_001354900.2:c.7527G>A	NP_001341829.1:p.Glu2509=
NM_001354901.2:c.7473G>A	NP_001341830.1:p.Glu2491=
NM_001354902.2:c.7377G>A	NP_001341831.1:p.Glu2459=
NM_001354903.2:c.7347G>A	NP_001341832.1:p.Glu2449=
NM_001354904.2:c.7272G>A	NP_001341833.1:p.Glu2424=
NM_001354905.2:c.7170G>A	NP_001341834.1:p.Glu2390=
NM_001354906.2:c.6801G>A	NP_001341835.1:p.Glu2267=