Canonical Allele Identifier: CA10578324

Gene: APC

Linked Data

• ClinVar Variation Id: 232800
• ClinVar RCV Id: RCV000217961 ; RCV003337258 ; RCV003743662
• dbSNP Id: rs761458613
• MyVariant Identifiers: chr5:g.112164670G>T (hg19) ; chr5:g.112828973G>T (hg38)
• PubMed: PMID:20685668 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112828973G>T , CM000667.2:g.112828973G>T	GRCh38
NC_000005.9:g.112164670G>T , CM000667.1:g.112164670G>T	GRCh37
NC_000005.8:g.112192569G>T	NCBI36
NG_008481.4:g.141453G>T , LRG_130:g.141453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-5978G>T	ENSP00000484935.2:n.1409-5978G>T
ENST00000504915.3:c.1797+1G>T	ENSP00000473355.2:n.1797+1G>T
ENST00000505084.2:n.1800G>T
ENST00000505350.2:c.*1749+1G>T	ENSP00000481752.1:n.*1749+1G>T
ENST00000507379.6:c.1689+1G>T	ENSP00000423224.2:n.1689+1G>T
ENST00000509732.6:c.1743+1G>T	ENSP00000426541.2:n.1743+1G>T
ENST00000512211.7:c.1743+1G>T	ENSP00000423828.3:n.1743+1G>T
ENST00000257430.9:c.1743+1G>T MANE Select	ENSP00000257430.4:n.1743+1G>T
ENST00000257430.8:c.1743+1G>T	ENSP00000257430.4:n.1743+1G>T
ENST00000502371.2:c.97-5978G>T
ENST00000504915.2:c.432+1G>T	ENSP00000473355.1:n.432+1G>T
ENST00000505084.1:n.231G>T
ENST00000507379.5:c.1689+1G>T	ENSP00000423224.1:n.1689+1G>T
ENST00000508376.6:c.1743+1G>T	ENSP00000427089.2:n.1743+1G>T
ENST00000508624.5:c.*1065+1G>T	ENSP00000424265.1:n.*1065+1G>T
ENST00000512211.6:c.1743+1G>T	ENSP00000423828.2:n.1743+1G>T
ENST00000520401.1:c.230+1G>T
NM_000038.5:c.1743+1G>T	NP_000029.2:n.1743+1G>T
NM_001127510.2:c.1743+1G>T	NP_001120982.1:n.1743+1G>T
NM_001127511.2:c.1689+1G>T	NP_001120983.2:n.1689+1G>T
NM_001354895.1:c.1743+1G>T	NP_001341824.1:n.1743+1G>T
NM_001354896.1:c.1797+1G>T	NP_001341825.1:n.1797+1G>T
NM_001354897.1:c.1773+1G>T	NP_001341826.1:n.1773+1G>T
NM_001354898.1:c.1668+1G>T	NP_001341827.1:n.1668+1G>T
NM_001354899.1:c.1659+1G>T	NP_001341828.1:n.1659+1G>T
NM_001354900.1:c.1620+1G>T	NP_001341829.1:n.1620+1G>T
NM_001354901.1:c.1566+1G>T	NP_001341830.1:n.1566+1G>T
NM_001354902.1:c.1470+1G>T	NP_001341831.1:n.1470+1G>T
NM_001354903.1:c.1440+1G>T	NP_001341832.1:n.1440+1G>T
NM_001354904.1:c.1365+1G>T	NP_001341833.1:n.1365+1G>T
NM_001354905.1:c.1263+1G>T	NP_001341834.1:n.1263+1G>T
NM_001354906.1:c.894+1G>T	NP_001341835.1:n.894+1G>T
NM_000038.6:c.1743+1G>T MANE Select	NP_000029.2:n.1743+1G>T
NM_001127510.3:c.1743+1G>T	NP_001120982.1:n.1743+1G>T
NM_001127511.3:c.1689+1G>T	NP_001120983.2:n.1689+1G>T
NM_001354895.2:c.1743+1G>T	NP_001341824.1:n.1743+1G>T
NM_001354896.2:c.1797+1G>T	NP_001341825.1:n.1797+1G>T
NM_001354897.2:c.1773+1G>T	NP_001341826.1:n.1773+1G>T
NM_001354898.2:c.1668+1G>T	NP_001341827.1:n.1668+1G>T
NM_001354899.2:c.1659+1G>T	NP_001341828.1:n.1659+1G>T
NM_001354900.2:c.1620+1G>T	NP_001341829.1:n.1620+1G>T
NM_001354901.2:c.1566+1G>T	NP_001341830.1:n.1566+1G>T
NM_001354902.2:c.1470+1G>T	NP_001341831.1:n.1470+1G>T
NM_001354903.2:c.1440+1G>T	NP_001341832.1:n.1440+1G>T
NM_001354904.2:c.1365+1G>T	NP_001341833.1:n.1365+1G>T
NM_001354905.2:c.1263+1G>T	NP_001341834.1:n.1263+1G>T
NM_001354906.2:c.894+1G>T	NP_001341835.1:n.894+1G>T