Canonical Allele Identifier: CA16025912

Gene: APC

Linked Data

• dbSNP Id: rs1060503282
• MyVariant Identifiers: chr5:g.112173388G>T (hg19) ; chr5:g.112837691G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837691G>T , CM000667.2:g.112837691G>T	GRCh38
NC_000005.9:g.112173388G>T , CM000667.1:g.112173388G>T	GRCh37
NC_000005.8:g.112201287G>T	NCBI36
NG_008481.4:g.150171G>T , LRG_130:g.150171G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1762G>T	ENSP00000484935.2:n.1762G>T
ENST00000504915.3:c.2151G>T	ENSP00000473355.2:p.Trp717Cys
ENST00000505350.2:c.*2103G>T	ENSP00000481752.1:n.*2103G>T
ENST00000507379.6:c.2043G>T	ENSP00000423224.2:p.Trp681Cys
ENST00000509732.6:c.2097G>T	ENSP00000426541.2:p.Trp699Cys
ENST00000512211.7:c.2097G>T	ENSP00000423828.3:p.Trp699Cys
ENST00000257430.9:c.2097G>T MANE Select	ENSP00000257430.4:p.Trp699Cys
ENST00000257430.8:c.2097G>T	ENSP00000257430.4:p.Trp699Cys
ENST00000502371.2:c.450G>T
ENST00000504915.2:c.786G>T	ENSP00000473355.1:p.Trp262Cys
ENST00000507379.5:c.2043G>T	ENSP00000423224.1:p.Trp681Cys
ENST00000508376.6:c.2097G>T	ENSP00000427089.2:p.Trp699Cys
ENST00000508624.5:c.*1419G>T	ENSP00000424265.1:n.*1419G>T
ENST00000512211.6:c.2097G>T	ENSP00000423828.2:p.Trp699Cys
ENST00000520401.1:c.230+8719G>T
NM_000038.5:c.2097G>T	NP_000029.2:p.Trp699Cys
NM_001127510.2:c.2097G>T	NP_001120982.1:p.Trp699Cys
NM_001127511.2:c.2043G>T	NP_001120983.2:p.Trp681Cys
NM_001354895.1:c.2097G>T	NP_001341824.1:p.Trp699Cys
NM_001354896.1:c.2151G>T	NP_001341825.1:p.Trp717Cys
NM_001354897.1:c.2127G>T	NP_001341826.1:p.Trp709Cys
NM_001354898.1:c.2022G>T	NP_001341827.1:p.Trp674Cys
NM_001354899.1:c.2013G>T	NP_001341828.1:p.Trp671Cys
NM_001354900.1:c.1974G>T	NP_001341829.1:p.Trp658Cys
NM_001354901.1:c.1920G>T	NP_001341830.1:p.Trp640Cys
NM_001354902.1:c.1824G>T	NP_001341831.1:p.Trp608Cys
NM_001354903.1:c.1794G>T	NP_001341832.1:p.Trp598Cys
NM_001354904.1:c.1719G>T	NP_001341833.1:p.Trp573Cys
NM_001354905.1:c.1617G>T	NP_001341834.1:p.Trp539Cys
NM_001354906.1:c.1248G>T	NP_001341835.1:p.Trp416Cys
NM_000038.6:c.2097G>T MANE Select	NP_000029.2:p.Trp699Cys
NM_001127510.3:c.2097G>T	NP_001120982.1:p.Trp699Cys
NM_001127511.3:c.2043G>T	NP_001120983.2:p.Trp681Cys
NM_001354895.2:c.2097G>T	NP_001341824.1:p.Trp699Cys
NM_001354896.2:c.2151G>T	NP_001341825.1:p.Trp717Cys
NM_001354897.2:c.2127G>T	NP_001341826.1:p.Trp709Cys
NM_001354898.2:c.2022G>T	NP_001341827.1:p.Trp674Cys
NM_001354899.2:c.2013G>T	NP_001341828.1:p.Trp671Cys
NM_001354900.2:c.1974G>T	NP_001341829.1:p.Trp658Cys
NM_001354901.2:c.1920G>T	NP_001341830.1:p.Trp640Cys
NM_001354902.2:c.1824G>T	NP_001341831.1:p.Trp608Cys
NM_001354903.2:c.1794G>T	NP_001341832.1:p.Trp598Cys
NM_001354904.2:c.1719G>T	NP_001341833.1:p.Trp573Cys
NM_001354905.2:c.1617G>T	NP_001341834.1:p.Trp539Cys
NM_001354906.2:c.1248G>T	NP_001341835.1:p.Trp416Cys