Canonical Allele Identifier: CA16036798

Gene: APC

Linked Data

• ClinVar Variation Id: 826840
• ClinVar RCV Id: RCV001026044 ; RCV002236288 ; RCV004004668
• dbSNP Id: rs1580678473
• gnomAD v4: 5-112842694-C-T
• MyVariant Identifiers: chr5:g.112178391C>T (hg19) ; chr5:g.112842694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842694C>T , CM000667.2:g.112842694C>T	GRCh38
NC_000005.9:g.112178391C>T , CM000667.1:g.112178391C>T	GRCh37
NC_000005.8:g.112206290C>T	NCBI36
NG_008481.4:g.155174C>T , LRG_130:g.155174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7154C>T	ENSP00000473355.2:p.Thr2385Ile
ENST00000505350.2:c.*7106C>T	ENSP00000481752.1:n.*7106C>T
ENST00000507379.6:c.7046C>T	ENSP00000423224.2:p.Thr2349Ile
ENST00000509732.6:c.7100C>T	ENSP00000426541.2:p.Thr2367Ile
ENST00000512211.7:c.7100C>T	ENSP00000423828.3:p.Thr2367Ile
ENST00000257430.9:c.7100C>T MANE Select	ENSP00000257430.4:p.Thr2367Ile
ENST00000257430.8:c.7100C>T	ENSP00000257430.4:p.Thr2367Ile
ENST00000508376.6:c.7100C>T	ENSP00000427089.2:p.Thr2367Ile
ENST00000508624.5:c.*6422C>T	ENSP00000424265.1:n.*6422C>T
ENST00000520401.1:c.230+13722C>T
NM_000038.5:c.7100C>T	NP_000029.2:p.Thr2367Ile
NM_001127510.2:c.7100C>T	NP_001120982.1:p.Thr2367Ile
NM_001127511.2:c.7046C>T	NP_001120983.2:p.Thr2349Ile
NM_001354895.1:c.7100C>T	NP_001341824.1:p.Thr2367Ile
NM_001354896.1:c.7154C>T	NP_001341825.1:p.Thr2385Ile
NM_001354897.1:c.7130C>T	NP_001341826.1:p.Thr2377Ile
NM_001354898.1:c.7025C>T	NP_001341827.1:p.Thr2342Ile
NM_001354899.1:c.7016C>T	NP_001341828.1:p.Thr2339Ile
NM_001354900.1:c.6977C>T	NP_001341829.1:p.Thr2326Ile
NM_001354901.1:c.6923C>T	NP_001341830.1:p.Thr2308Ile
NM_001354902.1:c.6827C>T	NP_001341831.1:p.Thr2276Ile
NM_001354903.1:c.6797C>T	NP_001341832.1:p.Thr2266Ile
NM_001354904.1:c.6722C>T	NP_001341833.1:p.Thr2241Ile
NM_001354905.1:c.6620C>T	NP_001341834.1:p.Thr2207Ile
NM_001354906.1:c.6251C>T	NP_001341835.1:p.Thr2084Ile
NM_000038.6:c.7100C>T MANE Select	NP_000029.2:p.Thr2367Ile
NM_001127510.3:c.7100C>T	NP_001120982.1:p.Thr2367Ile
NM_001127511.3:c.7046C>T	NP_001120983.2:p.Thr2349Ile
NM_001354895.2:c.7100C>T	NP_001341824.1:p.Thr2367Ile
NM_001354896.2:c.7154C>T	NP_001341825.1:p.Thr2385Ile
NM_001354897.2:c.7130C>T	NP_001341826.1:p.Thr2377Ile
NM_001354898.2:c.7025C>T	NP_001341827.1:p.Thr2342Ile
NM_001354899.2:c.7016C>T	NP_001341828.1:p.Thr2339Ile
NM_001354900.2:c.6977C>T	NP_001341829.1:p.Thr2326Ile
NM_001354901.2:c.6923C>T	NP_001341830.1:p.Thr2308Ile
NM_001354902.2:c.6827C>T	NP_001341831.1:p.Thr2276Ile
NM_001354903.2:c.6797C>T	NP_001341832.1:p.Thr2266Ile
NM_001354904.2:c.6722C>T	NP_001341833.1:p.Thr2241Ile
NM_001354905.2:c.6620C>T	NP_001341834.1:p.Thr2207Ile
NM_001354906.2:c.6251C>T	NP_001341835.1:p.Thr2084Ile