Canonical Allele Identifier: CA3368169

Gene: APC

Linked Data

• ClinVar Variation Id: 229746
• ClinVar RCV Id: RCV000218471 ; RCV003650471 ; RCV003907828 ; RCV003997765 ; RCV000758731 ; RCV002509311 ; RCV004020643
• dbSNP Id: rs876658169
• ExAC: 5:112176316 T / G
• gnomAD v2: 5-112176316-T-G
• gnomAD v3: 5-112840619-T-G
• gnomAD v4: 5-112840619-T-G
• MyVariant Identifiers: chr5:g.112176316T>G (hg19) ; chr5:g.112176316_112176319delinsGAGA (hg19) ; chr5:g.112840619T>G (hg38) ; chr5:g.112840619_112840622delinsGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840619T>G , CM000667.2:g.112840619T>G	GRCh38
NC_000005.9:g.112176316T>G , CM000667.1:g.112176316T>G	GRCh37
NC_000005.8:g.112204215T>G	NCBI36
NG_008481.4:g.153099T>G , LRG_130:g.153099T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5079T>G	ENSP00000473355.2:p.Val1693=
ENST00000505350.2:c.*5031T>G	ENSP00000481752.1:n.*5031T>G
ENST00000507379.6:c.4971T>G	ENSP00000423224.2:p.Val1657=
ENST00000509732.6:c.5025T>G	ENSP00000426541.2:p.Val1675=
ENST00000512211.7:c.5025T>G	ENSP00000423828.3:p.Val1675=
ENST00000257430.9:c.5025T>G MANE Select	ENSP00000257430.4:p.Val1675=
ENST00000257430.8:c.5025T>G	ENSP00000257430.4:p.Val1675=
ENST00000508376.6:c.5025T>G	ENSP00000427089.2:p.Val1675=
ENST00000508624.5:c.*4347T>G	ENSP00000424265.1:n.*4347T>G
ENST00000520401.1:c.230+11647T>G
NM_000038.5:c.5025T>G	NP_000029.2:p.Val1675=
NM_001127510.2:c.5025T>G	NP_001120982.1:p.Val1675=
NM_001127511.2:c.4971T>G	NP_001120983.2:p.Val1657=
NM_001354895.1:c.5025T>G	NP_001341824.1:p.Val1675=
NM_001354896.1:c.5079T>G	NP_001341825.1:p.Val1693=
NM_001354897.1:c.5055T>G	NP_001341826.1:p.Val1685=
NM_001354898.1:c.4950T>G	NP_001341827.1:p.Val1650=
NM_001354899.1:c.4941T>G	NP_001341828.1:p.Val1647=
NM_001354900.1:c.4902T>G	NP_001341829.1:p.Val1634=
NM_001354901.1:c.4848T>G	NP_001341830.1:p.Val1616=
NM_001354902.1:c.4752T>G	NP_001341831.1:p.Val1584=
NM_001354903.1:c.4722T>G	NP_001341832.1:p.Val1574=
NM_001354904.1:c.4647T>G	NP_001341833.1:p.Val1549=
NM_001354905.1:c.4545T>G	NP_001341834.1:p.Val1515=
NM_001354906.1:c.4176T>G	NP_001341835.1:p.Val1392=
NM_000038.6:c.5025T>G MANE Select	NP_000029.2:p.Val1675=
NM_001127510.3:c.5025T>G	NP_001120982.1:p.Val1675=
NM_001127511.3:c.4971T>G	NP_001120983.2:p.Val1657=
NM_001354895.2:c.5025T>G	NP_001341824.1:p.Val1675=
NM_001354896.2:c.5079T>G	NP_001341825.1:p.Val1693=
NM_001354897.2:c.5055T>G	NP_001341826.1:p.Val1685=
NM_001354898.2:c.4950T>G	NP_001341827.1:p.Val1650=
NM_001354899.2:c.4941T>G	NP_001341828.1:p.Val1647=
NM_001354900.2:c.4902T>G	NP_001341829.1:p.Val1634=
NM_001354901.2:c.4848T>G	NP_001341830.1:p.Val1616=
NM_001354902.2:c.4752T>G	NP_001341831.1:p.Val1584=
NM_001354903.2:c.4722T>G	NP_001341832.1:p.Val1574=
NM_001354904.2:c.4647T>G	NP_001341833.1:p.Val1549=
NM_001354905.2:c.4545T>G	NP_001341834.1:p.Val1515=
NM_001354906.2:c.4176T>G	NP_001341835.1:p.Val1392=