Canonical Allele Identifier: CA446211241

Gene: APC

Linked Data

• ClinVar Variation Id: 630903
• ClinVar RCV Id: RCV000776922 ; RCV000862200 ; RCV002233807
• dbSNP Id: rs1554088662
• gnomAD v4: 5-112843388-C-G
• MyVariant Identifiers: chr5:g.112179085C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843388C>G , CM000667.2:g.112843388C>G	GRCh38
NC_000005.9:g.112179085C>G , CM000667.1:g.112179085C>G	GRCh37
NC_000005.8:g.112206984C>G	NCBI36
NG_008481.4:g.155868C>G , LRG_130:g.155868C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7848C>G	ENSP00000473355.2:p.Thr2616=
ENST00000505350.2:c.*7800C>G	ENSP00000481752.1:n.*7800C>G
ENST00000507379.6:c.7740C>G	ENSP00000423224.2:p.Thr2580=
ENST00000509732.6:c.7794C>G	ENSP00000426541.2:p.Thr2598=
ENST00000512211.7:c.7794C>G	ENSP00000423828.3:p.Thr2598=
ENST00000257430.9:c.7794C>G MANE Select	ENSP00000257430.4:p.Thr2598=
ENST00000257430.8:c.7794C>G	ENSP00000257430.4:p.Thr2598=
ENST00000508376.6:c.7794C>G	ENSP00000427089.2:p.Thr2598=
ENST00000520401.1:c.231-13261C>G
NM_000038.5:c.7794C>G	NP_000029.2:p.Thr2598=
NM_001127510.2:c.7794C>G	NP_001120982.1:p.Thr2598=
NM_001127511.2:c.7740C>G	NP_001120983.2:p.Thr2580=
NM_001354895.1:c.7794C>G	NP_001341824.1:p.Thr2598=
NM_001354896.1:c.7848C>G	NP_001341825.1:p.Thr2616=
NM_001354897.1:c.7824C>G	NP_001341826.1:p.Thr2608=
NM_001354898.1:c.7719C>G	NP_001341827.1:p.Thr2573=
NM_001354899.1:c.7710C>G	NP_001341828.1:p.Thr2570=
NM_001354900.1:c.7671C>G	NP_001341829.1:p.Thr2557=
NM_001354901.1:c.7617C>G	NP_001341830.1:p.Thr2539=
NM_001354902.1:c.7521C>G	NP_001341831.1:p.Thr2507=
NM_001354903.1:c.7491C>G	NP_001341832.1:p.Thr2497=
NM_001354904.1:c.7416C>G	NP_001341833.1:p.Thr2472=
NM_001354905.1:c.7314C>G	NP_001341834.1:p.Thr2438=
NM_001354906.1:c.6945C>G	NP_001341835.1:p.Thr2315=
NM_000038.6:c.7794C>G MANE Select	NP_000029.2:p.Thr2598=
NM_001127510.3:c.7794C>G	NP_001120982.1:p.Thr2598=
NM_001127511.3:c.7740C>G	NP_001120983.2:p.Thr2580=
NM_001354895.2:c.7794C>G	NP_001341824.1:p.Thr2598=
NM_001354896.2:c.7848C>G	NP_001341825.1:p.Thr2616=
NM_001354897.2:c.7824C>G	NP_001341826.1:p.Thr2608=
NM_001354898.2:c.7719C>G	NP_001341827.1:p.Thr2573=
NM_001354899.2:c.7710C>G	NP_001341828.1:p.Thr2570=
NM_001354900.2:c.7671C>G	NP_001341829.1:p.Thr2557=
NM_001354901.2:c.7617C>G	NP_001341830.1:p.Thr2539=
NM_001354902.2:c.7521C>G	NP_001341831.1:p.Thr2507=
NM_001354903.2:c.7491C>G	NP_001341832.1:p.Thr2497=
NM_001354904.2:c.7416C>G	NP_001341833.1:p.Thr2472=
NM_001354905.2:c.7314C>G	NP_001341834.1:p.Thr2438=
NM_001354906.2:c.6945C>G	NP_001341835.1:p.Thr2315=