Canonical Allele Identifier: CA16028709

Gene: APC

Linked Data

• ClinVar Variation Id: 2567028
• ClinVar RCV Id: RCV003278297
• dbSNP Id: rs1580634617
• MyVariant Identifiers: chr5:g.112174658C>A (hg19) ; chr5:g.112838961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838961C>A , CM000667.2:g.112838961C>A	GRCh38
NC_000005.9:g.112174658C>A , CM000667.1:g.112174658C>A	GRCh37
NC_000005.8:g.112202557C>A	NCBI36
NG_008481.4:g.151441C>A , LRG_130:g.151441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3032C>A	ENSP00000484935.2:n.3032C>A
ENST00000504915.3:c.3421C>A	ENSP00000473355.2:p.Gln1141Lys
ENST00000505350.2:c.*3373C>A	ENSP00000481752.1:n.*3373C>A
ENST00000507379.6:c.3313C>A	ENSP00000423224.2:p.Gln1105Lys
ENST00000509732.6:c.3367C>A	ENSP00000426541.2:p.Gln1123Lys
ENST00000512211.7:c.3367C>A	ENSP00000423828.3:p.Gln1123Lys
ENST00000257430.9:c.3367C>A MANE Select	ENSP00000257430.4:p.Gln1123Lys
ENST00000257430.8:c.3367C>A	ENSP00000257430.4:p.Gln1123Lys
ENST00000502371.2:c.1720C>A
ENST00000507379.5:c.3313C>A	ENSP00000423224.1:p.Gln1105Lys
ENST00000508376.6:c.3367C>A	ENSP00000427089.2:p.Gln1123Lys
ENST00000508624.5:c.*2689C>A	ENSP00000424265.1:n.*2689C>A
ENST00000512211.6:c.3367C>A	ENSP00000423828.2:p.Gln1123Lys
ENST00000520401.1:c.230+9989C>A
NM_000038.5:c.3367C>A	NP_000029.2:p.Gln1123Lys
NM_001127510.2:c.3367C>A	NP_001120982.1:p.Gln1123Lys
NM_001127511.2:c.3313C>A	NP_001120983.2:p.Gln1105Lys
NM_001354895.1:c.3367C>A	NP_001341824.1:p.Gln1123Lys
NM_001354896.1:c.3421C>A	NP_001341825.1:p.Gln1141Lys
NM_001354897.1:c.3397C>A	NP_001341826.1:p.Gln1133Lys
NM_001354898.1:c.3292C>A	NP_001341827.1:p.Gln1098Lys
NM_001354899.1:c.3283C>A	NP_001341828.1:p.Gln1095Lys
NM_001354900.1:c.3244C>A	NP_001341829.1:p.Gln1082Lys
NM_001354901.1:c.3190C>A	NP_001341830.1:p.Gln1064Lys
NM_001354902.1:c.3094C>A	NP_001341831.1:p.Gln1032Lys
NM_001354903.1:c.3064C>A	NP_001341832.1:p.Gln1022Lys
NM_001354904.1:c.2989C>A	NP_001341833.1:p.Gln997Lys
NM_001354905.1:c.2887C>A	NP_001341834.1:p.Gln963Lys
NM_001354906.1:c.2518C>A	NP_001341835.1:p.Gln840Lys
NM_000038.6:c.3367C>A MANE Select	NP_000029.2:p.Gln1123Lys
NM_001127510.3:c.3367C>A	NP_001120982.1:p.Gln1123Lys
NM_001127511.3:c.3313C>A	NP_001120983.2:p.Gln1105Lys
NM_001354895.2:c.3367C>A	NP_001341824.1:p.Gln1123Lys
NM_001354896.2:c.3421C>A	NP_001341825.1:p.Gln1141Lys
NM_001354897.2:c.3397C>A	NP_001341826.1:p.Gln1133Lys
NM_001354898.2:c.3292C>A	NP_001341827.1:p.Gln1098Lys
NM_001354899.2:c.3283C>A	NP_001341828.1:p.Gln1095Lys
NM_001354900.2:c.3244C>A	NP_001341829.1:p.Gln1082Lys
NM_001354901.2:c.3190C>A	NP_001341830.1:p.Gln1064Lys
NM_001354902.2:c.3094C>A	NP_001341831.1:p.Gln1032Lys
NM_001354903.2:c.3064C>A	NP_001341832.1:p.Gln1022Lys
NM_001354904.2:c.2989C>A	NP_001341833.1:p.Gln997Lys
NM_001354905.2:c.2887C>A	NP_001341834.1:p.Gln963Lys
NM_001354906.2:c.2518C>A	NP_001341835.1:p.Gln840Lys