Canonical Allele Identifier: CA042432

Gene: APC

Linked Data

• ClinVar Variation Id: 470014
• ClinVar RCV Id: RCV000563639
• dbSNP Id: rs755764542
• ExAC: 5:112176910 C / T
• gnomAD v2: 5-112176910-C-T
• gnomAD v4: 5-112841213-C-T
• MyVariant Identifiers: chr5:g.112176910C>T (hg19) ; chr5:g.112841213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841213C>T , CM000667.2:g.112841213C>T	GRCh38
NC_000005.9:g.112176910C>T , CM000667.1:g.112176910C>T	GRCh37
NC_000005.8:g.112204809C>T	NCBI36
NG_008481.4:g.153693C>T , LRG_130:g.153693C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5673C>T	ENSP00000473355.2:p.Asp1891=
ENST00000505350.2:c.*5625C>T	ENSP00000481752.1:n.*5625C>T
ENST00000507379.6:c.5565C>T	ENSP00000423224.2:p.Asp1855=
ENST00000509732.6:c.5619C>T	ENSP00000426541.2:p.Asp1873=
ENST00000512211.7:c.5619C>T	ENSP00000423828.3:p.Asp1873=
ENST00000257430.9:c.5619C>T MANE Select	ENSP00000257430.4:p.Asp1873=
ENST00000257430.8:c.5619C>T	ENSP00000257430.4:p.Asp1873=
ENST00000508376.6:c.5619C>T	ENSP00000427089.2:p.Asp1873=
ENST00000508624.5:c.*4941C>T	ENSP00000424265.1:n.*4941C>T
ENST00000520401.1:c.230+12241C>T
NM_000038.5:c.5619C>T	NP_000029.2:p.Asp1873=
NM_001127510.2:c.5619C>T	NP_001120982.1:p.Asp1873=
NM_001127511.2:c.5565C>T	NP_001120983.2:p.Asp1855=
NM_001354895.1:c.5619C>T	NP_001341824.1:p.Asp1873=
NM_001354896.1:c.5673C>T	NP_001341825.1:p.Asp1891=
NM_001354897.1:c.5649C>T	NP_001341826.1:p.Asp1883=
NM_001354898.1:c.5544C>T	NP_001341827.1:p.Asp1848=
NM_001354899.1:c.5535C>T	NP_001341828.1:p.Asp1845=
NM_001354900.1:c.5496C>T	NP_001341829.1:p.Asp1832=
NM_001354901.1:c.5442C>T	NP_001341830.1:p.Asp1814=
NM_001354902.1:c.5346C>T	NP_001341831.1:p.Asp1782=
NM_001354903.1:c.5316C>T	NP_001341832.1:p.Asp1772=
NM_001354904.1:c.5241C>T	NP_001341833.1:p.Asp1747=
NM_001354905.1:c.5139C>T	NP_001341834.1:p.Asp1713=
NM_001354906.1:c.4770C>T	NP_001341835.1:p.Asp1590=
NM_000038.6:c.5619C>T MANE Select	NP_000029.2:p.Asp1873=
NM_001127510.3:c.5619C>T	NP_001120982.1:p.Asp1873=
NM_001127511.3:c.5565C>T	NP_001120983.2:p.Asp1855=
NM_001354895.2:c.5619C>T	NP_001341824.1:p.Asp1873=
NM_001354896.2:c.5673C>T	NP_001341825.1:p.Asp1891=
NM_001354897.2:c.5649C>T	NP_001341826.1:p.Asp1883=
NM_001354898.2:c.5544C>T	NP_001341827.1:p.Asp1848=
NM_001354899.2:c.5535C>T	NP_001341828.1:p.Asp1845=
NM_001354900.2:c.5496C>T	NP_001341829.1:p.Asp1832=
NM_001354901.2:c.5442C>T	NP_001341830.1:p.Asp1814=
NM_001354902.2:c.5346C>T	NP_001341831.1:p.Asp1782=
NM_001354903.2:c.5316C>T	NP_001341832.1:p.Asp1772=
NM_001354904.2:c.5241C>T	NP_001341833.1:p.Asp1747=
NM_001354905.2:c.5139C>T	NP_001341834.1:p.Asp1713=
NM_001354906.2:c.4770C>T	NP_001341835.1:p.Asp1590=