Canonical Allele Identifier: CA446211205

Gene: APC

Linked Data

• ClinVar Variation Id: 1579874
• ClinVar RCV Id: RCV003743807
• dbSNP Id: rs2149999792
• gnomAD v4: 5-112843730-C-T
• MyVariant Identifiers: chr5:g.112179427C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843730C>T , CM000667.2:g.112843730C>T	GRCh38
NC_000005.9:g.112179427C>T , CM000667.1:g.112179427C>T	GRCh37
NC_000005.8:g.112207326C>T	NCBI36
NG_008481.4:g.156210C>T , LRG_130:g.156210C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8190C>T	ENSP00000473355.2:p.Pro2730=
ENST00000505350.2:c.*8142C>T	ENSP00000481752.1:n.*8142C>T
ENST00000507379.6:c.8082C>T	ENSP00000423224.2:p.Pro2694=
ENST00000509732.6:c.8136C>T	ENSP00000426541.2:p.Pro2712=
ENST00000512211.7:c.8136C>T	ENSP00000423828.3:p.Pro2712=
ENST00000257430.9:c.8136C>T MANE Select	ENSP00000257430.4:p.Pro2712=
ENST00000257430.8:c.8136C>T	ENSP00000257430.4:p.Pro2712=
ENST00000508376.6:c.8136C>T	ENSP00000427089.2:p.Pro2712=
ENST00000520401.1:c.231-12919C>T
NM_000038.5:c.8136C>T	NP_000029.2:p.Pro2712=
NM_001127510.2:c.8136C>T	NP_001120982.1:p.Pro2712=
NM_001127511.2:c.8082C>T	NP_001120983.2:p.Pro2694=
NM_001354895.1:c.8136C>T	NP_001341824.1:p.Pro2712=
NM_001354896.1:c.8190C>T	NP_001341825.1:p.Pro2730=
NM_001354897.1:c.8166C>T	NP_001341826.1:p.Pro2722=
NM_001354898.1:c.8061C>T	NP_001341827.1:p.Pro2687=
NM_001354899.1:c.8052C>T	NP_001341828.1:p.Pro2684=
NM_001354900.1:c.8013C>T	NP_001341829.1:p.Pro2671=
NM_001354901.1:c.7959C>T	NP_001341830.1:p.Pro2653=
NM_001354902.1:c.7863C>T	NP_001341831.1:p.Pro2621=
NM_001354903.1:c.7833C>T	NP_001341832.1:p.Pro2611=
NM_001354904.1:c.7758C>T	NP_001341833.1:p.Pro2586=
NM_001354905.1:c.7656C>T	NP_001341834.1:p.Pro2552=
NM_001354906.1:c.7287C>T	NP_001341835.1:p.Pro2429=
NM_000038.6:c.8136C>T MANE Select	NP_000029.2:p.Pro2712=
NM_001127510.3:c.8136C>T	NP_001120982.1:p.Pro2712=
NM_001127511.3:c.8082C>T	NP_001120983.2:p.Pro2694=
NM_001354895.2:c.8136C>T	NP_001341824.1:p.Pro2712=
NM_001354896.2:c.8190C>T	NP_001341825.1:p.Pro2730=
NM_001354897.2:c.8166C>T	NP_001341826.1:p.Pro2722=
NM_001354898.2:c.8061C>T	NP_001341827.1:p.Pro2687=
NM_001354899.2:c.8052C>T	NP_001341828.1:p.Pro2684=
NM_001354900.2:c.8013C>T	NP_001341829.1:p.Pro2671=
NM_001354901.2:c.7959C>T	NP_001341830.1:p.Pro2653=
NM_001354902.2:c.7863C>T	NP_001341831.1:p.Pro2621=
NM_001354903.2:c.7833C>T	NP_001341832.1:p.Pro2611=
NM_001354904.2:c.7758C>T	NP_001341833.1:p.Pro2586=
NM_001354905.2:c.7656C>T	NP_001341834.1:p.Pro2552=
NM_001354906.2:c.7287C>T	NP_001341835.1:p.Pro2429=