Canonical Allele Identifier: CA16033525

Gene: APC

Linked Data

• ClinVar Variation Id: 486765
• ClinVar RCV Id: RCV000573057 ; RCV000657738 ; RCV003335521 ; RCV003159968 ; RCV003403363 ; RCV004001187
• dbSNP Id: rs1270783041
• COSMIC: COSM1644395
• MyVariant Identifiers: chr5:g.112176863C>T (hg19) ; chr5:g.112841166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841166C>T , CM000667.2:g.112841166C>T	GRCh38
NC_000005.9:g.112176863C>T , CM000667.1:g.112176863C>T	GRCh37
NC_000005.8:g.112204762C>T	NCBI36
NG_008481.4:g.153646C>T , LRG_130:g.153646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5626C>T	ENSP00000473355.2:p.Arg1876Ter
ENST00000505350.2:c.*5578C>T	ENSP00000481752.1:n.*5578C>T
ENST00000507379.6:c.5518C>T	ENSP00000423224.2:p.Arg1840Ter
ENST00000509732.6:c.5572C>T	ENSP00000426541.2:p.Arg1858Ter
ENST00000512211.7:c.5572C>T	ENSP00000423828.3:p.Arg1858Ter
ENST00000257430.9:c.5572C>T MANE Select	ENSP00000257430.4:p.Arg1858Ter
ENST00000257430.8:c.5572C>T	ENSP00000257430.4:p.Arg1858Ter
ENST00000508376.6:c.5572C>T	ENSP00000427089.2:p.Arg1858Ter
ENST00000508624.5:c.*4894C>T	ENSP00000424265.1:n.*4894C>T
ENST00000520401.1:c.230+12194C>T
NM_000038.5:c.5572C>T	NP_000029.2:p.Arg1858Ter
NM_001127510.2:c.5572C>T	NP_001120982.1:p.Arg1858Ter
NM_001127511.2:c.5518C>T	NP_001120983.2:p.Arg1840Ter
NM_001354895.1:c.5572C>T	NP_001341824.1:p.Arg1858Ter
NM_001354896.1:c.5626C>T	NP_001341825.1:p.Arg1876Ter
NM_001354897.1:c.5602C>T	NP_001341826.1:p.Arg1868Ter
NM_001354898.1:c.5497C>T	NP_001341827.1:p.Arg1833Ter
NM_001354899.1:c.5488C>T	NP_001341828.1:p.Arg1830Ter
NM_001354900.1:c.5449C>T	NP_001341829.1:p.Arg1817Ter
NM_001354901.1:c.5395C>T	NP_001341830.1:p.Arg1799Ter
NM_001354902.1:c.5299C>T	NP_001341831.1:p.Arg1767Ter
NM_001354903.1:c.5269C>T	NP_001341832.1:p.Arg1757Ter
NM_001354904.1:c.5194C>T	NP_001341833.1:p.Arg1732Ter
NM_001354905.1:c.5092C>T	NP_001341834.1:p.Arg1698Ter
NM_001354906.1:c.4723C>T	NP_001341835.1:p.Arg1575Ter
NM_000038.6:c.5572C>T MANE Select	NP_000029.2:p.Arg1858Ter
NM_001127510.3:c.5572C>T	NP_001120982.1:p.Arg1858Ter
NM_001127511.3:c.5518C>T	NP_001120983.2:p.Arg1840Ter
NM_001354895.2:c.5572C>T	NP_001341824.1:p.Arg1858Ter
NM_001354896.2:c.5626C>T	NP_001341825.1:p.Arg1876Ter
NM_001354897.2:c.5602C>T	NP_001341826.1:p.Arg1868Ter
NM_001354898.2:c.5497C>T	NP_001341827.1:p.Arg1833Ter
NM_001354899.2:c.5488C>T	NP_001341828.1:p.Arg1830Ter
NM_001354900.2:c.5449C>T	NP_001341829.1:p.Arg1817Ter
NM_001354901.2:c.5395C>T	NP_001341830.1:p.Arg1799Ter
NM_001354902.2:c.5299C>T	NP_001341831.1:p.Arg1767Ter
NM_001354903.2:c.5269C>T	NP_001341832.1:p.Arg1757Ter
NM_001354904.2:c.5194C>T	NP_001341833.1:p.Arg1732Ter
NM_001354905.2:c.5092C>T	NP_001341834.1:p.Arg1698Ter
NM_001354906.2:c.4723C>T	NP_001341835.1:p.Arg1575Ter