Canonical Allele Identifier: CA16031889

Gene: APC

Linked Data

• dbSNP Id: rs1580653022
• gnomAD v4: 5-112840413-A-T
• MyVariant Identifiers: chr5:g.112176110A>T (hg19) ; chr5:g.112840413A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840413A>T , CM000667.2:g.112840413A>T	GRCh38
NC_000005.9:g.112176110A>T , CM000667.1:g.112176110A>T	GRCh37
NC_000005.8:g.112204009A>T	NCBI36
NG_008481.4:g.152893A>T , LRG_130:g.152893A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4873A>T	ENSP00000473355.2:p.Arg1625Trp
ENST00000505350.2:c.*4825A>T	ENSP00000481752.1:n.*4825A>T
ENST00000507379.6:c.4765A>T	ENSP00000423224.2:p.Arg1589Trp
ENST00000509732.6:c.4819A>T	ENSP00000426541.2:p.Arg1607Trp
ENST00000512211.7:c.4819A>T	ENSP00000423828.3:p.Arg1607Trp
ENST00000257430.9:c.4819A>T MANE Select	ENSP00000257430.4:p.Arg1607Trp
ENST00000257430.8:c.4819A>T	ENSP00000257430.4:p.Arg1607Trp
ENST00000508376.6:c.4819A>T	ENSP00000427089.2:p.Arg1607Trp
ENST00000508624.5:c.*4141A>T	ENSP00000424265.1:n.*4141A>T
ENST00000520401.1:c.230+11441A>T
NM_000038.5:c.4819A>T	NP_000029.2:p.Arg1607Trp
NM_001127510.2:c.4819A>T	NP_001120982.1:p.Arg1607Trp
NM_001127511.2:c.4765A>T	NP_001120983.2:p.Arg1589Trp
NM_001354895.1:c.4819A>T	NP_001341824.1:p.Arg1607Trp
NM_001354896.1:c.4873A>T	NP_001341825.1:p.Arg1625Trp
NM_001354897.1:c.4849A>T	NP_001341826.1:p.Arg1617Trp
NM_001354898.1:c.4744A>T	NP_001341827.1:p.Arg1582Trp
NM_001354899.1:c.4735A>T	NP_001341828.1:p.Arg1579Trp
NM_001354900.1:c.4696A>T	NP_001341829.1:p.Arg1566Trp
NM_001354901.1:c.4642A>T	NP_001341830.1:p.Arg1548Trp
NM_001354902.1:c.4546A>T	NP_001341831.1:p.Arg1516Trp
NM_001354903.1:c.4516A>T	NP_001341832.1:p.Arg1506Trp
NM_001354904.1:c.4441A>T	NP_001341833.1:p.Arg1481Trp
NM_001354905.1:c.4339A>T	NP_001341834.1:p.Arg1447Trp
NM_001354906.1:c.3970A>T	NP_001341835.1:p.Arg1324Trp
NM_000038.6:c.4819A>T MANE Select	NP_000029.2:p.Arg1607Trp
NM_001127510.3:c.4819A>T	NP_001120982.1:p.Arg1607Trp
NM_001127511.3:c.4765A>T	NP_001120983.2:p.Arg1589Trp
NM_001354895.2:c.4819A>T	NP_001341824.1:p.Arg1607Trp
NM_001354896.2:c.4873A>T	NP_001341825.1:p.Arg1625Trp
NM_001354897.2:c.4849A>T	NP_001341826.1:p.Arg1617Trp
NM_001354898.2:c.4744A>T	NP_001341827.1:p.Arg1582Trp
NM_001354899.2:c.4735A>T	NP_001341828.1:p.Arg1579Trp
NM_001354900.2:c.4696A>T	NP_001341829.1:p.Arg1566Trp
NM_001354901.2:c.4642A>T	NP_001341830.1:p.Arg1548Trp
NM_001354902.2:c.4546A>T	NP_001341831.1:p.Arg1516Trp
NM_001354903.2:c.4516A>T	NP_001341832.1:p.Arg1506Trp
NM_001354904.2:c.4441A>T	NP_001341833.1:p.Arg1481Trp
NM_001354905.2:c.4339A>T	NP_001341834.1:p.Arg1447Trp
NM_001354906.2:c.3970A>T	NP_001341835.1:p.Arg1324Trp