Canonical Allele Identifier: CA445963144

Gene: APC

Linked Data

• ClinVar Variation Id: 1143955
• ClinVar RCV Id: RCV002449274 ; RCV003538796
• dbSNP Id: rs2149883068
• gnomAD v4: 5-112838642-T-C
• MyVariant Identifiers: chr5:g.112174339T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838642T>C , CM000667.2:g.112838642T>C	GRCh38
NC_000005.9:g.112174339T>C , CM000667.1:g.112174339T>C	GRCh37
NC_000005.8:g.112202238T>C	NCBI36
NG_008481.4:g.151122T>C , LRG_130:g.151122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2713T>C	ENSP00000484935.2:n.2713T>C
ENST00000504915.3:c.3102T>C	ENSP00000473355.2:p.Asp1034=
ENST00000505350.2:c.*3054T>C	ENSP00000481752.1:n.*3054T>C
ENST00000507379.6:c.2994T>C	ENSP00000423224.2:p.Asp998=
ENST00000509732.6:c.3048T>C	ENSP00000426541.2:p.Asp1016=
ENST00000512211.7:c.3048T>C	ENSP00000423828.3:p.Asp1016=
ENST00000257430.9:c.3048T>C MANE Select	ENSP00000257430.4:p.Asp1016=
ENST00000257430.8:c.3048T>C	ENSP00000257430.4:p.Asp1016=
ENST00000502371.2:c.1401T>C
ENST00000507379.5:c.2994T>C	ENSP00000423224.1:p.Asp998=
ENST00000508376.6:c.3048T>C	ENSP00000427089.2:p.Asp1016=
ENST00000508624.5:c.*2370T>C	ENSP00000424265.1:n.*2370T>C
ENST00000512211.6:c.3048T>C	ENSP00000423828.2:p.Asp1016=
ENST00000520401.1:c.230+9670T>C
NM_000038.5:c.3048T>C	NP_000029.2:p.Asp1016=
NM_001127510.2:c.3048T>C	NP_001120982.1:p.Asp1016=
NM_001127511.2:c.2994T>C	NP_001120983.2:p.Asp998=
NM_001354895.1:c.3048T>C	NP_001341824.1:p.Asp1016=
NM_001354896.1:c.3102T>C	NP_001341825.1:p.Asp1034=
NM_001354897.1:c.3078T>C	NP_001341826.1:p.Asp1026=
NM_001354898.1:c.2973T>C	NP_001341827.1:p.Asp991=
NM_001354899.1:c.2964T>C	NP_001341828.1:p.Asp988=
NM_001354900.1:c.2925T>C	NP_001341829.1:p.Asp975=
NM_001354901.1:c.2871T>C	NP_001341830.1:p.Asp957=
NM_001354902.1:c.2775T>C	NP_001341831.1:p.Asp925=
NM_001354903.1:c.2745T>C	NP_001341832.1:p.Asp915=
NM_001354904.1:c.2670T>C	NP_001341833.1:p.Asp890=
NM_001354905.1:c.2568T>C	NP_001341834.1:p.Asp856=
NM_001354906.1:c.2199T>C	NP_001341835.1:p.Asp733=
NM_000038.6:c.3048T>C MANE Select	NP_000029.2:p.Asp1016=
NM_001127510.3:c.3048T>C	NP_001120982.1:p.Asp1016=
NM_001127511.3:c.2994T>C	NP_001120983.2:p.Asp998=
NM_001354895.2:c.3048T>C	NP_001341824.1:p.Asp1016=
NM_001354896.2:c.3102T>C	NP_001341825.1:p.Asp1034=
NM_001354897.2:c.3078T>C	NP_001341826.1:p.Asp1026=
NM_001354898.2:c.2973T>C	NP_001341827.1:p.Asp991=
NM_001354899.2:c.2964T>C	NP_001341828.1:p.Asp988=
NM_001354900.2:c.2925T>C	NP_001341829.1:p.Asp975=
NM_001354901.2:c.2871T>C	NP_001341830.1:p.Asp957=
NM_001354902.2:c.2775T>C	NP_001341831.1:p.Asp925=
NM_001354903.2:c.2745T>C	NP_001341832.1:p.Asp915=
NM_001354904.2:c.2670T>C	NP_001341833.1:p.Asp890=
NM_001354905.2:c.2568T>C	NP_001341834.1:p.Asp856=
NM_001354906.2:c.2199T>C	NP_001341835.1:p.Asp733=