Canonical Allele Identifier: CA446210059

Gene: APC

Linked Data

• ClinVar Variation Id: 1757189
• ClinVar RCV Id: RCV002367374
• dbSNP Id: rs2149980025
• MyVariant Identifiers: chr5:g.112178392A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842695A>G , CM000667.2:g.112842695A>G	GRCh38
NC_000005.9:g.112178392A>G , CM000667.1:g.112178392A>G	GRCh37
NC_000005.8:g.112206291A>G	NCBI36
NG_008481.4:g.155175A>G , LRG_130:g.155175A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7155A>G	ENSP00000473355.2:p.Thr2385=
ENST00000505350.2:c.*7107A>G	ENSP00000481752.1:n.*7107A>G
ENST00000507379.6:c.7047A>G	ENSP00000423224.2:p.Thr2349=
ENST00000509732.6:c.7101A>G	ENSP00000426541.2:p.Thr2367=
ENST00000512211.7:c.7101A>G	ENSP00000423828.3:p.Thr2367=
ENST00000257430.9:c.7101A>G MANE Select	ENSP00000257430.4:p.Thr2367=
ENST00000257430.8:c.7101A>G	ENSP00000257430.4:p.Thr2367=
ENST00000508376.6:c.7101A>G	ENSP00000427089.2:p.Thr2367=
ENST00000508624.5:c.*6423A>G	ENSP00000424265.1:n.*6423A>G
ENST00000520401.1:c.230+13723A>G
NM_000038.5:c.7101A>G	NP_000029.2:p.Thr2367=
NM_001127510.2:c.7101A>G	NP_001120982.1:p.Thr2367=
NM_001127511.2:c.7047A>G	NP_001120983.2:p.Thr2349=
NM_001354895.1:c.7101A>G	NP_001341824.1:p.Thr2367=
NM_001354896.1:c.7155A>G	NP_001341825.1:p.Thr2385=
NM_001354897.1:c.7131A>G	NP_001341826.1:p.Thr2377=
NM_001354898.1:c.7026A>G	NP_001341827.1:p.Thr2342=
NM_001354899.1:c.7017A>G	NP_001341828.1:p.Thr2339=
NM_001354900.1:c.6978A>G	NP_001341829.1:p.Thr2326=
NM_001354901.1:c.6924A>G	NP_001341830.1:p.Thr2308=
NM_001354902.1:c.6828A>G	NP_001341831.1:p.Thr2276=
NM_001354903.1:c.6798A>G	NP_001341832.1:p.Thr2266=
NM_001354904.1:c.6723A>G	NP_001341833.1:p.Thr2241=
NM_001354905.1:c.6621A>G	NP_001341834.1:p.Thr2207=
NM_001354906.1:c.6252A>G	NP_001341835.1:p.Thr2084=
NM_000038.6:c.7101A>G MANE Select	NP_000029.2:p.Thr2367=
NM_001127510.3:c.7101A>G	NP_001120982.1:p.Thr2367=
NM_001127511.3:c.7047A>G	NP_001120983.2:p.Thr2349=
NM_001354895.2:c.7101A>G	NP_001341824.1:p.Thr2367=
NM_001354896.2:c.7155A>G	NP_001341825.1:p.Thr2385=
NM_001354897.2:c.7131A>G	NP_001341826.1:p.Thr2377=
NM_001354898.2:c.7026A>G	NP_001341827.1:p.Thr2342=
NM_001354899.2:c.7017A>G	NP_001341828.1:p.Thr2339=
NM_001354900.2:c.6978A>G	NP_001341829.1:p.Thr2326=
NM_001354901.2:c.6924A>G	NP_001341830.1:p.Thr2308=
NM_001354902.2:c.6828A>G	NP_001341831.1:p.Thr2276=
NM_001354903.2:c.6798A>G	NP_001341832.1:p.Thr2266=
NM_001354904.2:c.6723A>G	NP_001341833.1:p.Thr2241=
NM_001354905.2:c.6621A>G	NP_001341834.1:p.Thr2207=
NM_001354906.2:c.6252A>G	NP_001341835.1:p.Thr2084=