Canonical Allele Identifier: CA10578326

Gene: APC

Linked Data

• ClinVar Variation Id: 231116
• ClinVar RCV Id: RCV001533785 ; RCV001818523 ; RCV002518292 ; RCV003765413 ; RCV003897486
• dbSNP Id: rs876658969
• gnomAD v2: 5-112170650-A-G
• gnomAD v3: 5-112834953-A-G
• gnomAD v4: 5-112834953-A-G
• MyVariant Identifiers: chr5:g.112170650A>G (hg19) ; chr5:g.112834953A>G (hg38)
• ERepo: CA10578326/MONDO:0021056/089

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834953A>G , CM000667.2:g.112834953A>G	GRCh38
NC_000005.9:g.112170650A>G , CM000667.1:g.112170650A>G	GRCh37
NC_000005.8:g.112198549A>G	NCBI36
NG_008481.4:g.147433A>G , LRG_130:g.147433A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1411A>G	ENSP00000484935.2:p.Ile471Val
ENST00000504915.3:c.1800A>G	ENSP00000473355.2:p.Glu600=
ENST00000505350.2:c.*1752A>G	ENSP00000481752.1:n.*1752A>G
ENST00000507379.6:c.1692A>G	ENSP00000423224.2:p.Glu564=
ENST00000509732.6:c.1746A>G	ENSP00000426541.2:p.Glu582=
ENST00000512211.7:c.1746A>G	ENSP00000423828.3:p.Glu582=
ENST00000257430.9:c.1746A>G MANE Select	ENSP00000257430.4:p.Glu582=
ENST00000257430.8:c.1746A>G	ENSP00000257430.4:p.Glu582=
ENST00000502371.2:c.99A>G
ENST00000504915.2:c.435A>G	ENSP00000473355.1:p.Glu145=
ENST00000507379.5:c.1692A>G	ENSP00000423224.1:p.Glu564=
ENST00000508376.6:c.1746A>G	ENSP00000427089.2:p.Glu582=
ENST00000508624.5:c.*1068A>G	ENSP00000424265.1:n.*1068A>G
ENST00000512211.6:c.1746A>G	ENSP00000423828.2:p.Glu582=
ENST00000520401.1:c.230+5981A>G
NM_000038.5:c.1746A>G	NP_000029.2:p.Glu582=
NM_001127510.2:c.1746A>G	NP_001120982.1:p.Glu582=
NM_001127511.2:c.1692A>G	NP_001120983.2:p.Glu564=
NM_001354895.1:c.1746A>G	NP_001341824.1:p.Glu582=
NM_001354896.1:c.1800A>G	NP_001341825.1:p.Glu600=
NM_001354897.1:c.1776A>G	NP_001341826.1:p.Glu592=
NM_001354898.1:c.1671A>G	NP_001341827.1:p.Glu557=
NM_001354899.1:c.1662A>G	NP_001341828.1:p.Glu554=
NM_001354900.1:c.1623A>G	NP_001341829.1:p.Glu541=
NM_001354901.1:c.1569A>G	NP_001341830.1:p.Glu523=
NM_001354902.1:c.1473A>G	NP_001341831.1:p.Glu491=
NM_001354903.1:c.1443A>G	NP_001341832.1:p.Glu481=
NM_001354904.1:c.1368A>G	NP_001341833.1:p.Glu456=
NM_001354905.1:c.1266A>G	NP_001341834.1:p.Glu422=
NM_001354906.1:c.897A>G	NP_001341835.1:p.Glu299=
NM_000038.6:c.1746A>G MANE Select	NP_000029.2:p.Glu582=
NM_001127510.3:c.1746A>G	NP_001120982.1:p.Glu582=
NM_001127511.3:c.1692A>G	NP_001120983.2:p.Glu564=
NM_001354895.2:c.1746A>G	NP_001341824.1:p.Glu582=
NM_001354896.2:c.1800A>G	NP_001341825.1:p.Glu600=
NM_001354897.2:c.1776A>G	NP_001341826.1:p.Glu592=
NM_001354898.2:c.1671A>G	NP_001341827.1:p.Glu557=
NM_001354899.2:c.1662A>G	NP_001341828.1:p.Glu554=
NM_001354900.2:c.1623A>G	NP_001341829.1:p.Glu541=
NM_001354901.2:c.1569A>G	NP_001341830.1:p.Glu523=
NM_001354902.2:c.1473A>G	NP_001341831.1:p.Glu491=
NM_001354903.2:c.1443A>G	NP_001341832.1:p.Glu481=
NM_001354904.2:c.1368A>G	NP_001341833.1:p.Glu456=
NM_001354905.2:c.1266A>G	NP_001341834.1:p.Glu422=
NM_001354906.2:c.897A>G	NP_001341835.1:p.Glu299=