Canonical Allele Identifier: CA008046

Gene: APC

Linked Data

• ClinVar Variation Id: 142204
• ClinVar RCV Id: RCV000131194 ; RCV003764869 ; RCV003998089
• dbSNP Id: rs587782306
• gnomAD v4: 5-112838712-A-T
• MyVariant Identifiers: chr5:g.112174409A>T (hg19) ; chr5:g.112838712A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838712A>T , CM000667.2:g.112838712A>T	GRCh38
NC_000005.9:g.112174409A>T , CM000667.1:g.112174409A>T	GRCh37
NC_000005.8:g.112202308A>T	NCBI36
NG_008481.4:g.151192A>T , LRG_130:g.151192A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2783A>T	ENSP00000484935.2:n.2783A>T
ENST00000504915.3:c.3172A>T	ENSP00000473355.2:p.Arg1058Trp
ENST00000505350.2:c.*3124A>T	ENSP00000481752.1:n.*3124A>T
ENST00000507379.6:c.3064A>T	ENSP00000423224.2:p.Arg1022Trp
ENST00000509732.6:c.3118A>T	ENSP00000426541.2:p.Arg1040Trp
ENST00000512211.7:c.3118A>T	ENSP00000423828.3:p.Arg1040Trp
ENST00000257430.9:c.3118A>T MANE Select	ENSP00000257430.4:p.Arg1040Trp
ENST00000257430.8:c.3118A>T	ENSP00000257430.4:p.Arg1040Trp
ENST00000502371.2:c.1471A>T
ENST00000507379.5:c.3064A>T	ENSP00000423224.1:p.Arg1022Trp
ENST00000508376.6:c.3118A>T	ENSP00000427089.2:p.Arg1040Trp
ENST00000508624.5:c.*2440A>T	ENSP00000424265.1:n.*2440A>T
ENST00000512211.6:c.3118A>T	ENSP00000423828.2:p.Arg1040Trp
ENST00000520401.1:c.230+9740A>T
NM_000038.5:c.3118A>T	NP_000029.2:p.Arg1040Trp
NM_001127510.2:c.3118A>T	NP_001120982.1:p.Arg1040Trp
NM_001127511.2:c.3064A>T	NP_001120983.2:p.Arg1022Trp
NM_001354895.1:c.3118A>T	NP_001341824.1:p.Arg1040Trp
NM_001354896.1:c.3172A>T	NP_001341825.1:p.Arg1058Trp
NM_001354897.1:c.3148A>T	NP_001341826.1:p.Arg1050Trp
NM_001354898.1:c.3043A>T	NP_001341827.1:p.Arg1015Trp
NM_001354899.1:c.3034A>T	NP_001341828.1:p.Arg1012Trp
NM_001354900.1:c.2995A>T	NP_001341829.1:p.Arg999Trp
NM_001354901.1:c.2941A>T	NP_001341830.1:p.Arg981Trp
NM_001354902.1:c.2845A>T	NP_001341831.1:p.Arg949Trp
NM_001354903.1:c.2815A>T	NP_001341832.1:p.Arg939Trp
NM_001354904.1:c.2740A>T	NP_001341833.1:p.Arg914Trp
NM_001354905.1:c.2638A>T	NP_001341834.1:p.Arg880Trp
NM_001354906.1:c.2269A>T	NP_001341835.1:p.Arg757Trp
NM_000038.6:c.3118A>T MANE Select	NP_000029.2:p.Arg1040Trp
NM_001127510.3:c.3118A>T	NP_001120982.1:p.Arg1040Trp
NM_001127511.3:c.3064A>T	NP_001120983.2:p.Arg1022Trp
NM_001354895.2:c.3118A>T	NP_001341824.1:p.Arg1040Trp
NM_001354896.2:c.3172A>T	NP_001341825.1:p.Arg1058Trp
NM_001354897.2:c.3148A>T	NP_001341826.1:p.Arg1050Trp
NM_001354898.2:c.3043A>T	NP_001341827.1:p.Arg1015Trp
NM_001354899.2:c.3034A>T	NP_001341828.1:p.Arg1012Trp
NM_001354900.2:c.2995A>T	NP_001341829.1:p.Arg999Trp
NM_001354901.2:c.2941A>T	NP_001341830.1:p.Arg981Trp
NM_001354902.2:c.2845A>T	NP_001341831.1:p.Arg949Trp
NM_001354903.2:c.2815A>T	NP_001341832.1:p.Arg939Trp
NM_001354904.2:c.2740A>T	NP_001341833.1:p.Arg914Trp
NM_001354905.2:c.2638A>T	NP_001341834.1:p.Arg880Trp
NM_001354906.2:c.2269A>T	NP_001341835.1:p.Arg757Trp