Canonical Allele Identifier: CA10578329

Gene: APC

Linked Data

• ClinVar Variation Id: 232045
• ClinVar RCV Id: RCV000215115 ; RCV000520225 ; RCV001194208 ; RCV003337256
• dbSNP Id: rs876659517
• gnomAD v4: 5-112835080-C-T
• MyVariant Identifiers: chr5:g.112170777C>T (hg19) ; chr5:g.112835080C>T (hg38)
• PubMed: PMID:131661 ; PMID:1316610 ; PMID:9950360 ; PMID:15951963 ; PMID:23159591 ; PMID:23460355

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835080C>T , CM000667.2:g.112835080C>T	GRCh38
NC_000005.9:g.112170777C>T , CM000667.1:g.112170777C>T	GRCh37
NC_000005.8:g.112198676C>T	NCBI36
NG_008481.4:g.147560C>T , LRG_130:g.147560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1538C>T	ENSP00000484935.2:n.1538C>T
ENST00000504915.3:c.1927C>T	ENSP00000473355.2:p.Gln643Ter
ENST00000505350.2:c.*1879C>T	ENSP00000481752.1:n.*1879C>T
ENST00000507379.6:c.1819C>T	ENSP00000423224.2:p.Gln607Ter
ENST00000509732.6:c.1873C>T	ENSP00000426541.2:p.Gln625Ter
ENST00000512211.7:c.1873C>T	ENSP00000423828.3:p.Gln625Ter
ENST00000257430.9:c.1873C>T MANE Select	ENSP00000257430.4:p.Gln625Ter
ENST00000257430.8:c.1873C>T	ENSP00000257430.4:p.Gln625Ter
ENST00000502371.2:c.226C>T
ENST00000504915.2:c.562C>T	ENSP00000473355.1:p.Gln188Ter
ENST00000507379.5:c.1819C>T	ENSP00000423224.1:p.Gln607Ter
ENST00000508376.6:c.1873C>T	ENSP00000427089.2:p.Gln625Ter
ENST00000508624.5:c.*1195C>T	ENSP00000424265.1:n.*1195C>T
ENST00000512211.6:c.1873C>T	ENSP00000423828.2:p.Gln625Ter
ENST00000520401.1:c.230+6108C>T
NM_000038.5:c.1873C>T	NP_000029.2:p.Gln625Ter
NM_001127510.2:c.1873C>T	NP_001120982.1:p.Gln625Ter
NM_001127511.2:c.1819C>T	NP_001120983.2:p.Gln607Ter
NM_001354895.1:c.1873C>T	NP_001341824.1:p.Gln625Ter
NM_001354896.1:c.1927C>T	NP_001341825.1:p.Gln643Ter
NM_001354897.1:c.1903C>T	NP_001341826.1:p.Gln635Ter
NM_001354898.1:c.1798C>T	NP_001341827.1:p.Gln600Ter
NM_001354899.1:c.1789C>T	NP_001341828.1:p.Gln597Ter
NM_001354900.1:c.1750C>T	NP_001341829.1:p.Gln584Ter
NM_001354901.1:c.1696C>T	NP_001341830.1:p.Gln566Ter
NM_001354902.1:c.1600C>T	NP_001341831.1:p.Gln534Ter
NM_001354903.1:c.1570C>T	NP_001341832.1:p.Gln524Ter
NM_001354904.1:c.1495C>T	NP_001341833.1:p.Gln499Ter
NM_001354905.1:c.1393C>T	NP_001341834.1:p.Gln465Ter
NM_001354906.1:c.1024C>T	NP_001341835.1:p.Gln342Ter
NM_000038.6:c.1873C>T MANE Select	NP_000029.2:p.Gln625Ter
NM_001127510.3:c.1873C>T	NP_001120982.1:p.Gln625Ter
NM_001127511.3:c.1819C>T	NP_001120983.2:p.Gln607Ter
NM_001354895.2:c.1873C>T	NP_001341824.1:p.Gln625Ter
NM_001354896.2:c.1927C>T	NP_001341825.1:p.Gln643Ter
NM_001354897.2:c.1903C>T	NP_001341826.1:p.Gln635Ter
NM_001354898.2:c.1798C>T	NP_001341827.1:p.Gln600Ter
NM_001354899.2:c.1789C>T	NP_001341828.1:p.Gln597Ter
NM_001354900.2:c.1750C>T	NP_001341829.1:p.Gln584Ter
NM_001354901.2:c.1696C>T	NP_001341830.1:p.Gln566Ter
NM_001354902.2:c.1600C>T	NP_001341831.1:p.Gln534Ter
NM_001354903.2:c.1570C>T	NP_001341832.1:p.Gln524Ter
NM_001354904.2:c.1495C>T	NP_001341833.1:p.Gln499Ter
NM_001354905.2:c.1393C>T	NP_001341834.1:p.Gln465Ter
NM_001354906.2:c.1024C>T	NP_001341835.1:p.Gln342Ter