Canonical Allele Identifier: CA037378

Gene: APC

Linked Data

• ClinVar Variation Id: 421196
• ClinVar RCV Id: RCV002469172 ; RCV003743745
• dbSNP Id: rs781621926
• ExAC: 5:112175307 G / A
• gnomAD v2: 5-112175307-G-A
• gnomAD v3: 5-112839610-G-A
• gnomAD v4: 5-112839610-G-A
• COSMIC: COSM143914
• MyVariant Identifiers: chr5:g.112175307G>A (hg19) ; chr5:g.112839610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839610G>A , CM000667.2:g.112839610G>A	GRCh38
NC_000005.9:g.112175307G>A , CM000667.1:g.112175307G>A	GRCh37
NC_000005.8:g.112203206G>A	NCBI36
NG_008481.4:g.152090G>A , LRG_130:g.152090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3681G>A	ENSP00000484935.2:n.3681G>A
ENST00000504915.3:c.4070G>A	ENSP00000473355.2:p.Gly1357Asp
ENST00000505350.2:c.*4022G>A	ENSP00000481752.1:n.*4022G>A
ENST00000507379.6:c.3962G>A	ENSP00000423224.2:p.Gly1321Asp
ENST00000509732.6:c.4016G>A	ENSP00000426541.2:p.Gly1339Asp
ENST00000512211.7:c.4016G>A	ENSP00000423828.3:p.Gly1339Asp
ENST00000257430.9:c.4016G>A MANE Select	ENSP00000257430.4:p.Gly1339Asp
ENST00000257430.8:c.4016G>A	ENSP00000257430.4:p.Gly1339Asp
ENST00000502371.2:c.2369G>A
ENST00000508376.6:c.4016G>A	ENSP00000427089.2:p.Gly1339Asp
ENST00000508624.5:c.*3338G>A	ENSP00000424265.1:n.*3338G>A
ENST00000520401.1:c.230+10638G>A
NM_000038.5:c.4016G>A	NP_000029.2:p.Gly1339Asp
NM_001127510.2:c.4016G>A	NP_001120982.1:p.Gly1339Asp
NM_001127511.2:c.3962G>A	NP_001120983.2:p.Gly1321Asp
NM_001354895.1:c.4016G>A	NP_001341824.1:p.Gly1339Asp
NM_001354896.1:c.4070G>A	NP_001341825.1:p.Gly1357Asp
NM_001354897.1:c.4046G>A	NP_001341826.1:p.Gly1349Asp
NM_001354898.1:c.3941G>A	NP_001341827.1:p.Gly1314Asp
NM_001354899.1:c.3932G>A	NP_001341828.1:p.Gly1311Asp
NM_001354900.1:c.3893G>A	NP_001341829.1:p.Gly1298Asp
NM_001354901.1:c.3839G>A	NP_001341830.1:p.Gly1280Asp
NM_001354902.1:c.3743G>A	NP_001341831.1:p.Gly1248Asp
NM_001354903.1:c.3713G>A	NP_001341832.1:p.Gly1238Asp
NM_001354904.1:c.3638G>A	NP_001341833.1:p.Gly1213Asp
NM_001354905.1:c.3536G>A	NP_001341834.1:p.Gly1179Asp
NM_001354906.1:c.3167G>A	NP_001341835.1:p.Gly1056Asp
NM_000038.6:c.4016G>A MANE Select	NP_000029.2:p.Gly1339Asp
NM_001127510.3:c.4016G>A	NP_001120982.1:p.Gly1339Asp
NM_001127511.3:c.3962G>A	NP_001120983.2:p.Gly1321Asp
NM_001354895.2:c.4016G>A	NP_001341824.1:p.Gly1339Asp
NM_001354896.2:c.4070G>A	NP_001341825.1:p.Gly1357Asp
NM_001354897.2:c.4046G>A	NP_001341826.1:p.Gly1349Asp
NM_001354898.2:c.3941G>A	NP_001341827.1:p.Gly1314Asp
NM_001354899.2:c.3932G>A	NP_001341828.1:p.Gly1311Asp
NM_001354900.2:c.3893G>A	NP_001341829.1:p.Gly1298Asp
NM_001354901.2:c.3839G>A	NP_001341830.1:p.Gly1280Asp
NM_001354902.2:c.3743G>A	NP_001341831.1:p.Gly1248Asp
NM_001354903.2:c.3713G>A	NP_001341832.1:p.Gly1238Asp
NM_001354904.2:c.3638G>A	NP_001341833.1:p.Gly1213Asp
NM_001354905.2:c.3536G>A	NP_001341834.1:p.Gly1179Asp
NM_001354906.2:c.3167G>A	NP_001341835.1:p.Gly1056Asp