Canonical Allele Identifier: CA348555

Gene: APC

Linked Data

• ClinVar Variation Id: 220587
• ClinVar RCV Id: RCV002229529 ; RCV002336563
• dbSNP Id: rs373698193
• MyVariant Identifiers: chr5:g.112176406C>G (hg19) ; chr5:g.112840709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840709C>G , CM000667.2:g.112840709C>G	GRCh38
NC_000005.9:g.112176406C>G , CM000667.1:g.112176406C>G	GRCh37
NC_000005.8:g.112204305C>G	NCBI36
NG_008481.4:g.153189C>G , LRG_130:g.153189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5169C>G	ENSP00000473355.2:p.Thr1723=
ENST00000505350.2:c.*5121C>G	ENSP00000481752.1:n.*5121C>G
ENST00000507379.6:c.5061C>G	ENSP00000423224.2:p.Thr1687=
ENST00000509732.6:c.5115C>G	ENSP00000426541.2:p.Thr1705=
ENST00000512211.7:c.5115C>G	ENSP00000423828.3:p.Thr1705=
ENST00000257430.9:c.5115C>G MANE Select	ENSP00000257430.4:p.Thr1705=
ENST00000257430.8:c.5115C>G	ENSP00000257430.4:p.Thr1705=
ENST00000508376.6:c.5115C>G	ENSP00000427089.2:p.Thr1705=
ENST00000508624.5:c.*4437C>G	ENSP00000424265.1:n.*4437C>G
ENST00000520401.1:c.230+11737C>G
NM_000038.5:c.5115C>G	NP_000029.2:p.Thr1705=
NM_001127510.2:c.5115C>G	NP_001120982.1:p.Thr1705=
NM_001127511.2:c.5061C>G	NP_001120983.2:p.Thr1687=
NM_001354895.1:c.5115C>G	NP_001341824.1:p.Thr1705=
NM_001354896.1:c.5169C>G	NP_001341825.1:p.Thr1723=
NM_001354897.1:c.5145C>G	NP_001341826.1:p.Thr1715=
NM_001354898.1:c.5040C>G	NP_001341827.1:p.Thr1680=
NM_001354899.1:c.5031C>G	NP_001341828.1:p.Thr1677=
NM_001354900.1:c.4992C>G	NP_001341829.1:p.Thr1664=
NM_001354901.1:c.4938C>G	NP_001341830.1:p.Thr1646=
NM_001354902.1:c.4842C>G	NP_001341831.1:p.Thr1614=
NM_001354903.1:c.4812C>G	NP_001341832.1:p.Thr1604=
NM_001354904.1:c.4737C>G	NP_001341833.1:p.Thr1579=
NM_001354905.1:c.4635C>G	NP_001341834.1:p.Thr1545=
NM_001354906.1:c.4266C>G	NP_001341835.1:p.Thr1422=
NM_000038.6:c.5115C>G MANE Select	NP_000029.2:p.Thr1705=
NM_001127510.3:c.5115C>G	NP_001120982.1:p.Thr1705=
NM_001127511.3:c.5061C>G	NP_001120983.2:p.Thr1687=
NM_001354895.2:c.5115C>G	NP_001341824.1:p.Thr1705=
NM_001354896.2:c.5169C>G	NP_001341825.1:p.Thr1723=
NM_001354897.2:c.5145C>G	NP_001341826.1:p.Thr1715=
NM_001354898.2:c.5040C>G	NP_001341827.1:p.Thr1680=
NM_001354899.2:c.5031C>G	NP_001341828.1:p.Thr1677=
NM_001354900.2:c.4992C>G	NP_001341829.1:p.Thr1664=
NM_001354901.2:c.4938C>G	NP_001341830.1:p.Thr1646=
NM_001354902.2:c.4842C>G	NP_001341831.1:p.Thr1614=
NM_001354903.2:c.4812C>G	NP_001341832.1:p.Thr1604=
NM_001354904.2:c.4737C>G	NP_001341833.1:p.Thr1579=
NM_001354905.2:c.4635C>G	NP_001341834.1:p.Thr1545=
NM_001354906.2:c.4266C>G	NP_001341835.1:p.Thr1422=