Canonical Allele Identifier: CA16029903

Gene: APC

Linked Data

• ClinVar Variation Id: 1371114
• ClinVar RCV Id: RCV003585000 ; RCV003772614
• dbSNP Id: rs2149901776
• MyVariant Identifiers: chr5:g.112175198C>A (hg19) ; chr5:g.112839501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839501C>A , CM000667.2:g.112839501C>A	GRCh38
NC_000005.9:g.112175198C>A , CM000667.1:g.112175198C>A	GRCh37
NC_000005.8:g.112203097C>A	NCBI36
NG_008481.4:g.151981C>A , LRG_130:g.151981C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3572C>A	ENSP00000484935.2:n.3572C>A
ENST00000504915.3:c.3961C>A	ENSP00000473355.2:p.Gln1321Lys
ENST00000505350.2:c.*3913C>A	ENSP00000481752.1:n.*3913C>A
ENST00000507379.6:c.3853C>A	ENSP00000423224.2:p.Gln1285Lys
ENST00000509732.6:c.3907C>A	ENSP00000426541.2:p.Gln1303Lys
ENST00000512211.7:c.3907C>A	ENSP00000423828.3:p.Gln1303Lys
ENST00000257430.9:c.3907C>A MANE Select	ENSP00000257430.4:p.Gln1303Lys
ENST00000257430.8:c.3907C>A	ENSP00000257430.4:p.Gln1303Lys
ENST00000502371.2:c.2260C>A
ENST00000508376.6:c.3907C>A	ENSP00000427089.2:p.Gln1303Lys
ENST00000508624.5:c.*3229C>A	ENSP00000424265.1:n.*3229C>A
ENST00000512211.6:c.3907C>A	ENSP00000423828.2:p.Gln1303Lys
ENST00000520401.1:c.230+10529C>A
NM_000038.5:c.3907C>A	NP_000029.2:p.Gln1303Lys
NM_001127510.2:c.3907C>A	NP_001120982.1:p.Gln1303Lys
NM_001127511.2:c.3853C>A	NP_001120983.2:p.Gln1285Lys
NM_001354895.1:c.3907C>A	NP_001341824.1:p.Gln1303Lys
NM_001354896.1:c.3961C>A	NP_001341825.1:p.Gln1321Lys
NM_001354897.1:c.3937C>A	NP_001341826.1:p.Gln1313Lys
NM_001354898.1:c.3832C>A	NP_001341827.1:p.Gln1278Lys
NM_001354899.1:c.3823C>A	NP_001341828.1:p.Gln1275Lys
NM_001354900.1:c.3784C>A	NP_001341829.1:p.Gln1262Lys
NM_001354901.1:c.3730C>A	NP_001341830.1:p.Gln1244Lys
NM_001354902.1:c.3634C>A	NP_001341831.1:p.Gln1212Lys
NM_001354903.1:c.3604C>A	NP_001341832.1:p.Gln1202Lys
NM_001354904.1:c.3529C>A	NP_001341833.1:p.Gln1177Lys
NM_001354905.1:c.3427C>A	NP_001341834.1:p.Gln1143Lys
NM_001354906.1:c.3058C>A	NP_001341835.1:p.Gln1020Lys
NM_000038.6:c.3907C>A MANE Select	NP_000029.2:p.Gln1303Lys
NM_001127510.3:c.3907C>A	NP_001120982.1:p.Gln1303Lys
NM_001127511.3:c.3853C>A	NP_001120983.2:p.Gln1285Lys
NM_001354895.2:c.3907C>A	NP_001341824.1:p.Gln1303Lys
NM_001354896.2:c.3961C>A	NP_001341825.1:p.Gln1321Lys
NM_001354897.2:c.3937C>A	NP_001341826.1:p.Gln1313Lys
NM_001354898.2:c.3832C>A	NP_001341827.1:p.Gln1278Lys
NM_001354899.2:c.3823C>A	NP_001341828.1:p.Gln1275Lys
NM_001354900.2:c.3784C>A	NP_001341829.1:p.Gln1262Lys
NM_001354901.2:c.3730C>A	NP_001341830.1:p.Gln1244Lys
NM_001354902.2:c.3634C>A	NP_001341831.1:p.Gln1212Lys
NM_001354903.2:c.3604C>A	NP_001341832.1:p.Gln1202Lys
NM_001354904.2:c.3529C>A	NP_001341833.1:p.Gln1177Lys
NM_001354905.2:c.3427C>A	NP_001341834.1:p.Gln1143Lys
NM_001354906.2:c.3058C>A	NP_001341835.1:p.Gln1020Lys