Canonical Allele Identifier: CA16032865

Gene: APC

Linked Data

• ClinVar Variation Id: 921024
• ClinVar RCV Id: RCV001180166 ; RCV004006633 ; RCV002558939
• dbSNP Id: rs1765908360
• gnomAD v4: 5-112840870-C-T
• MyVariant Identifiers: chr5:g.112176567C>T (hg19) ; chr5:g.112840870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840870C>T , CM000667.2:g.112840870C>T	GRCh38
NC_000005.9:g.112176567C>T , CM000667.1:g.112176567C>T	GRCh37
NC_000005.8:g.112204466C>T	NCBI36
NG_008481.4:g.153350C>T , LRG_130:g.153350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5330C>T	ENSP00000473355.2:p.Ala1777Val
ENST00000505350.2:c.*5282C>T	ENSP00000481752.1:n.*5282C>T
ENST00000507379.6:c.5222C>T	ENSP00000423224.2:p.Ala1741Val
ENST00000509732.6:c.5276C>T	ENSP00000426541.2:p.Ala1759Val
ENST00000512211.7:c.5276C>T	ENSP00000423828.3:p.Ala1759Val
ENST00000257430.9:c.5276C>T MANE Select	ENSP00000257430.4:p.Ala1759Val
ENST00000257430.8:c.5276C>T	ENSP00000257430.4:p.Ala1759Val
ENST00000508376.6:c.5276C>T	ENSP00000427089.2:p.Ala1759Val
ENST00000508624.5:c.*4598C>T	ENSP00000424265.1:n.*4598C>T
ENST00000520401.1:c.230+11898C>T
NM_000038.5:c.5276C>T	NP_000029.2:p.Ala1759Val
NM_001127510.2:c.5276C>T	NP_001120982.1:p.Ala1759Val
NM_001127511.2:c.5222C>T	NP_001120983.2:p.Ala1741Val
NM_001354895.1:c.5276C>T	NP_001341824.1:p.Ala1759Val
NM_001354896.1:c.5330C>T	NP_001341825.1:p.Ala1777Val
NM_001354897.1:c.5306C>T	NP_001341826.1:p.Ala1769Val
NM_001354898.1:c.5201C>T	NP_001341827.1:p.Ala1734Val
NM_001354899.1:c.5192C>T	NP_001341828.1:p.Ala1731Val
NM_001354900.1:c.5153C>T	NP_001341829.1:p.Ala1718Val
NM_001354901.1:c.5099C>T	NP_001341830.1:p.Ala1700Val
NM_001354902.1:c.5003C>T	NP_001341831.1:p.Ala1668Val
NM_001354903.1:c.4973C>T	NP_001341832.1:p.Ala1658Val
NM_001354904.1:c.4898C>T	NP_001341833.1:p.Ala1633Val
NM_001354905.1:c.4796C>T	NP_001341834.1:p.Ala1599Val
NM_001354906.1:c.4427C>T	NP_001341835.1:p.Ala1476Val
NM_000038.6:c.5276C>T MANE Select	NP_000029.2:p.Ala1759Val
NM_001127510.3:c.5276C>T	NP_001120982.1:p.Ala1759Val
NM_001127511.3:c.5222C>T	NP_001120983.2:p.Ala1741Val
NM_001354895.2:c.5276C>T	NP_001341824.1:p.Ala1759Val
NM_001354896.2:c.5330C>T	NP_001341825.1:p.Ala1777Val
NM_001354897.2:c.5306C>T	NP_001341826.1:p.Ala1769Val
NM_001354898.2:c.5201C>T	NP_001341827.1:p.Ala1734Val
NM_001354899.2:c.5192C>T	NP_001341828.1:p.Ala1731Val
NM_001354900.2:c.5153C>T	NP_001341829.1:p.Ala1718Val
NM_001354901.2:c.5099C>T	NP_001341830.1:p.Ala1700Val
NM_001354902.2:c.5003C>T	NP_001341831.1:p.Ala1668Val
NM_001354903.2:c.4973C>T	NP_001341832.1:p.Ala1658Val
NM_001354904.2:c.4898C>T	NP_001341833.1:p.Ala1633Val
NM_001354905.2:c.4796C>T	NP_001341834.1:p.Ala1599Val
NM_001354906.2:c.4427C>T	NP_001341835.1:p.Ala1476Val