Canonical Allele Identifier: CA16032532

Gene: APC

Linked Data

• ClinVar Variation Id: 469991
• ClinVar RCV Id: RCV001189874 ; RCV001775866 ; RCV003742727
• dbSNP Id: rs1554086463
• gnomAD v4: 5-112840719-A-T
• MyVariant Identifiers: chr5:g.112176416A>T (hg19) ; chr5:g.112840719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840719A>T , CM000667.2:g.112840719A>T	GRCh38
NC_000005.9:g.112176416A>T , CM000667.1:g.112176416A>T	GRCh37
NC_000005.8:g.112204315A>T	NCBI36
NG_008481.4:g.153199A>T , LRG_130:g.153199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5179A>T	ENSP00000473355.2:p.Thr1727Ser
ENST00000505350.2:c.*5131A>T	ENSP00000481752.1:n.*5131A>T
ENST00000507379.6:c.5071A>T	ENSP00000423224.2:p.Thr1691Ser
ENST00000509732.6:c.5125A>T	ENSP00000426541.2:p.Thr1709Ser
ENST00000512211.7:c.5125A>T	ENSP00000423828.3:p.Thr1709Ser
ENST00000257430.9:c.5125A>T MANE Select	ENSP00000257430.4:p.Thr1709Ser
ENST00000257430.8:c.5125A>T	ENSP00000257430.4:p.Thr1709Ser
ENST00000508376.6:c.5125A>T	ENSP00000427089.2:p.Thr1709Ser
ENST00000508624.5:c.*4447A>T	ENSP00000424265.1:n.*4447A>T
ENST00000520401.1:c.230+11747A>T
NM_000038.5:c.5125A>T	NP_000029.2:p.Thr1709Ser
NM_001127510.2:c.5125A>T	NP_001120982.1:p.Thr1709Ser
NM_001127511.2:c.5071A>T	NP_001120983.2:p.Thr1691Ser
NM_001354895.1:c.5125A>T	NP_001341824.1:p.Thr1709Ser
NM_001354896.1:c.5179A>T	NP_001341825.1:p.Thr1727Ser
NM_001354897.1:c.5155A>T	NP_001341826.1:p.Thr1719Ser
NM_001354898.1:c.5050A>T	NP_001341827.1:p.Thr1684Ser
NM_001354899.1:c.5041A>T	NP_001341828.1:p.Thr1681Ser
NM_001354900.1:c.5002A>T	NP_001341829.1:p.Thr1668Ser
NM_001354901.1:c.4948A>T	NP_001341830.1:p.Thr1650Ser
NM_001354902.1:c.4852A>T	NP_001341831.1:p.Thr1618Ser
NM_001354903.1:c.4822A>T	NP_001341832.1:p.Thr1608Ser
NM_001354904.1:c.4747A>T	NP_001341833.1:p.Thr1583Ser
NM_001354905.1:c.4645A>T	NP_001341834.1:p.Thr1549Ser
NM_001354906.1:c.4276A>T	NP_001341835.1:p.Thr1426Ser
NM_000038.6:c.5125A>T MANE Select	NP_000029.2:p.Thr1709Ser
NM_001127510.3:c.5125A>T	NP_001120982.1:p.Thr1709Ser
NM_001127511.3:c.5071A>T	NP_001120983.2:p.Thr1691Ser
NM_001354895.2:c.5125A>T	NP_001341824.1:p.Thr1709Ser
NM_001354896.2:c.5179A>T	NP_001341825.1:p.Thr1727Ser
NM_001354897.2:c.5155A>T	NP_001341826.1:p.Thr1719Ser
NM_001354898.2:c.5050A>T	NP_001341827.1:p.Thr1684Ser
NM_001354899.2:c.5041A>T	NP_001341828.1:p.Thr1681Ser
NM_001354900.2:c.5002A>T	NP_001341829.1:p.Thr1668Ser
NM_001354901.2:c.4948A>T	NP_001341830.1:p.Thr1650Ser
NM_001354902.2:c.4852A>T	NP_001341831.1:p.Thr1618Ser
NM_001354903.2:c.4822A>T	NP_001341832.1:p.Thr1608Ser
NM_001354904.2:c.4747A>T	NP_001341833.1:p.Thr1583Ser
NM_001354905.2:c.4645A>T	NP_001341834.1:p.Thr1549Ser
NM_001354906.2:c.4276A>T	NP_001341835.1:p.Thr1426Ser