Canonical Allele Identifier: CA033599

Gene: APC

Linked Data

• ClinVar Variation Id: 469774
• ClinVar RCV Id: RCV003767013
• dbSNP Id: rs780366551
• ExAC: 5:112174111 G / A
• gnomAD v2: 5-112174111-G-A
• gnomAD v3: 5-112838414-G-A
• gnomAD v4: 5-112838414-G-A
• MyVariant Identifiers: chr5:g.112174111G>A (hg19) ; chr5:g.112838414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838414G>A , CM000667.2:g.112838414G>A	GRCh38
NC_000005.9:g.112174111G>A , CM000667.1:g.112174111G>A	GRCh37
NC_000005.8:g.112202010G>A	NCBI36
NG_008481.4:g.150894G>A , LRG_130:g.150894G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.2485G>A	ENSP00000484935.2:n.2485G>A
ENST00000504915.3:c.2874G>A	ENSP00000473355.2:p.Ser958=
ENST00000505350.2:c.*2826G>A	ENSP00000481752.1:n.*2826G>A
ENST00000507379.6:c.2766G>A	ENSP00000423224.2:p.Ser922=
ENST00000509732.6:c.2820G>A	ENSP00000426541.2:p.Ser940=
ENST00000512211.7:c.2820G>A	ENSP00000423828.3:p.Ser940=
ENST00000257430.9:c.2820G>A MANE Select	ENSP00000257430.4:p.Ser940=
ENST00000257430.8:c.2820G>A	ENSP00000257430.4:p.Ser940=
ENST00000502371.2:c.1173G>A
ENST00000507379.5:c.2766G>A	ENSP00000423224.1:p.Ser922=
ENST00000508376.6:c.2820G>A	ENSP00000427089.2:p.Ser940=
ENST00000508624.5:c.*2142G>A	ENSP00000424265.1:n.*2142G>A
ENST00000512211.6:c.2820G>A	ENSP00000423828.2:p.Ser940=
ENST00000520401.1:c.230+9442G>A
NM_000038.5:c.2820G>A	NP_000029.2:p.Ser940=
NM_001127510.2:c.2820G>A	NP_001120982.1:p.Ser940=
NM_001127511.2:c.2766G>A	NP_001120983.2:p.Ser922=
NM_001354895.1:c.2820G>A	NP_001341824.1:p.Ser940=
NM_001354896.1:c.2874G>A	NP_001341825.1:p.Ser958=
NM_001354897.1:c.2850G>A	NP_001341826.1:p.Ser950=
NM_001354898.1:c.2745G>A	NP_001341827.1:p.Ser915=
NM_001354899.1:c.2736G>A	NP_001341828.1:p.Ser912=
NM_001354900.1:c.2697G>A	NP_001341829.1:p.Ser899=
NM_001354901.1:c.2643G>A	NP_001341830.1:p.Ser881=
NM_001354902.1:c.2547G>A	NP_001341831.1:p.Ser849=
NM_001354903.1:c.2517G>A	NP_001341832.1:p.Ser839=
NM_001354904.1:c.2442G>A	NP_001341833.1:p.Ser814=
NM_001354905.1:c.2340G>A	NP_001341834.1:p.Ser780=
NM_001354906.1:c.1971G>A	NP_001341835.1:p.Ser657=
NM_000038.6:c.2820G>A MANE Select	NP_000029.2:p.Ser940=
NM_001127510.3:c.2820G>A	NP_001120982.1:p.Ser940=
NM_001127511.3:c.2766G>A	NP_001120983.2:p.Ser922=
NM_001354895.2:c.2820G>A	NP_001341824.1:p.Ser940=
NM_001354896.2:c.2874G>A	NP_001341825.1:p.Ser958=
NM_001354897.2:c.2850G>A	NP_001341826.1:p.Ser950=
NM_001354898.2:c.2745G>A	NP_001341827.1:p.Ser915=
NM_001354899.2:c.2736G>A	NP_001341828.1:p.Ser912=
NM_001354900.2:c.2697G>A	NP_001341829.1:p.Ser899=
NM_001354901.2:c.2643G>A	NP_001341830.1:p.Ser881=
NM_001354902.2:c.2547G>A	NP_001341831.1:p.Ser849=
NM_001354903.2:c.2517G>A	NP_001341832.1:p.Ser839=
NM_001354904.2:c.2442G>A	NP_001341833.1:p.Ser814=
NM_001354905.2:c.2340G>A	NP_001341834.1:p.Ser780=
NM_001354906.2:c.1971G>A	NP_001341835.1:p.Ser657=