Canonical Allele Identifier: CA16033938

Gene: APC

Linked Data

• ClinVar Variation Id: 628990
• ClinVar RCV Id: RCV000773673 ; RCV000825284 ; RCV001759453 ; RCV003768346
• dbSNP Id: rs1060503324
• MyVariant Identifiers: chr5:g.112177052G>T (hg19) ; chr5:g.112841355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841355G>T , CM000667.2:g.112841355G>T	GRCh38
NC_000005.9:g.112177052G>T , CM000667.1:g.112177052G>T	GRCh37
NC_000005.8:g.112204951G>T	NCBI36
NG_008481.4:g.153835G>T , LRG_130:g.153835G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5815G>T	ENSP00000473355.2:p.Gly1939Cys
ENST00000505350.2:c.*5767G>T	ENSP00000481752.1:n.*5767G>T
ENST00000507379.6:c.5707G>T	ENSP00000423224.2:p.Gly1903Cys
ENST00000509732.6:c.5761G>T	ENSP00000426541.2:p.Gly1921Cys
ENST00000512211.7:c.5761G>T	ENSP00000423828.3:p.Gly1921Cys
ENST00000257430.9:c.5761G>T MANE Select	ENSP00000257430.4:p.Gly1921Cys
ENST00000257430.8:c.5761G>T	ENSP00000257430.4:p.Gly1921Cys
ENST00000508376.6:c.5761G>T	ENSP00000427089.2:p.Gly1921Cys
ENST00000508624.5:c.*5083G>T	ENSP00000424265.1:n.*5083G>T
ENST00000520401.1:c.230+12383G>T
NM_000038.5:c.5761G>T	NP_000029.2:p.Gly1921Cys
NM_001127510.2:c.5761G>T	NP_001120982.1:p.Gly1921Cys
NM_001127511.2:c.5707G>T	NP_001120983.2:p.Gly1903Cys
NM_001354895.1:c.5761G>T	NP_001341824.1:p.Gly1921Cys
NM_001354896.1:c.5815G>T	NP_001341825.1:p.Gly1939Cys
NM_001354897.1:c.5791G>T	NP_001341826.1:p.Gly1931Cys
NM_001354898.1:c.5686G>T	NP_001341827.1:p.Gly1896Cys
NM_001354899.1:c.5677G>T	NP_001341828.1:p.Gly1893Cys
NM_001354900.1:c.5638G>T	NP_001341829.1:p.Gly1880Cys
NM_001354901.1:c.5584G>T	NP_001341830.1:p.Gly1862Cys
NM_001354902.1:c.5488G>T	NP_001341831.1:p.Gly1830Cys
NM_001354903.1:c.5458G>T	NP_001341832.1:p.Gly1820Cys
NM_001354904.1:c.5383G>T	NP_001341833.1:p.Gly1795Cys
NM_001354905.1:c.5281G>T	NP_001341834.1:p.Gly1761Cys
NM_001354906.1:c.4912G>T	NP_001341835.1:p.Gly1638Cys
NM_000038.6:c.5761G>T MANE Select	NP_000029.2:p.Gly1921Cys
NM_001127510.3:c.5761G>T	NP_001120982.1:p.Gly1921Cys
NM_001127511.3:c.5707G>T	NP_001120983.2:p.Gly1903Cys
NM_001354895.2:c.5761G>T	NP_001341824.1:p.Gly1921Cys
NM_001354896.2:c.5815G>T	NP_001341825.1:p.Gly1939Cys
NM_001354897.2:c.5791G>T	NP_001341826.1:p.Gly1931Cys
NM_001354898.2:c.5686G>T	NP_001341827.1:p.Gly1896Cys
NM_001354899.2:c.5677G>T	NP_001341828.1:p.Gly1893Cys
NM_001354900.2:c.5638G>T	NP_001341829.1:p.Gly1880Cys
NM_001354901.2:c.5584G>T	NP_001341830.1:p.Gly1862Cys
NM_001354902.2:c.5488G>T	NP_001341831.1:p.Gly1830Cys
NM_001354903.2:c.5458G>T	NP_001341832.1:p.Gly1820Cys
NM_001354904.2:c.5383G>T	NP_001341833.1:p.Gly1795Cys
NM_001354905.2:c.5281G>T	NP_001341834.1:p.Gly1761Cys
NM_001354906.2:c.4912G>T	NP_001341835.1:p.Gly1638Cys