Canonical Allele Identifier: CA16036816

Gene: APC

Linked Data

• ClinVar Variation Id: 1369754
• ClinVar RCV Id: RCV003772596
• dbSNP Id: rs1161972648
• MyVariant Identifiers: chr5:g.112178403G>A (hg19) ; chr5:g.112842706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842706G>A , CM000667.2:g.112842706G>A	GRCh38
NC_000005.9:g.112178403G>A , CM000667.1:g.112178403G>A	GRCh37
NC_000005.8:g.112206302G>A	NCBI36
NG_008481.4:g.155186G>A , LRG_130:g.155186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7166G>A	ENSP00000473355.2:p.Arg2389Lys
ENST00000505350.2:c.*7118G>A	ENSP00000481752.1:n.*7118G>A
ENST00000507379.6:c.7058G>A	ENSP00000423224.2:p.Arg2353Lys
ENST00000509732.6:c.7112G>A	ENSP00000426541.2:p.Arg2371Lys
ENST00000512211.7:c.7112G>A	ENSP00000423828.3:p.Arg2371Lys
ENST00000257430.9:c.7112G>A MANE Select	ENSP00000257430.4:p.Arg2371Lys
ENST00000257430.8:c.7112G>A	ENSP00000257430.4:p.Arg2371Lys
ENST00000508376.6:c.7112G>A	ENSP00000427089.2:p.Arg2371Lys
ENST00000508624.5:c.*6434G>A	ENSP00000424265.1:n.*6434G>A
ENST00000520401.1:c.230+13734G>A
NM_000038.5:c.7112G>A	NP_000029.2:p.Arg2371Lys
NM_001127510.2:c.7112G>A	NP_001120982.1:p.Arg2371Lys
NM_001127511.2:c.7058G>A	NP_001120983.2:p.Arg2353Lys
NM_001354895.1:c.7112G>A	NP_001341824.1:p.Arg2371Lys
NM_001354896.1:c.7166G>A	NP_001341825.1:p.Arg2389Lys
NM_001354897.1:c.7142G>A	NP_001341826.1:p.Arg2381Lys
NM_001354898.1:c.7037G>A	NP_001341827.1:p.Arg2346Lys
NM_001354899.1:c.7028G>A	NP_001341828.1:p.Arg2343Lys
NM_001354900.1:c.6989G>A	NP_001341829.1:p.Arg2330Lys
NM_001354901.1:c.6935G>A	NP_001341830.1:p.Arg2312Lys
NM_001354902.1:c.6839G>A	NP_001341831.1:p.Arg2280Lys
NM_001354903.1:c.6809G>A	NP_001341832.1:p.Arg2270Lys
NM_001354904.1:c.6734G>A	NP_001341833.1:p.Arg2245Lys
NM_001354905.1:c.6632G>A	NP_001341834.1:p.Arg2211Lys
NM_001354906.1:c.6263G>A	NP_001341835.1:p.Arg2088Lys
NM_000038.6:c.7112G>A MANE Select	NP_000029.2:p.Arg2371Lys
NM_001127510.3:c.7112G>A	NP_001120982.1:p.Arg2371Lys
NM_001127511.3:c.7058G>A	NP_001120983.2:p.Arg2353Lys
NM_001354895.2:c.7112G>A	NP_001341824.1:p.Arg2371Lys
NM_001354896.2:c.7166G>A	NP_001341825.1:p.Arg2389Lys
NM_001354897.2:c.7142G>A	NP_001341826.1:p.Arg2381Lys
NM_001354898.2:c.7037G>A	NP_001341827.1:p.Arg2346Lys
NM_001354899.2:c.7028G>A	NP_001341828.1:p.Arg2343Lys
NM_001354900.2:c.6989G>A	NP_001341829.1:p.Arg2330Lys
NM_001354901.2:c.6935G>A	NP_001341830.1:p.Arg2312Lys
NM_001354902.2:c.6839G>A	NP_001341831.1:p.Arg2280Lys
NM_001354903.2:c.6809G>A	NP_001341832.1:p.Arg2270Lys
NM_001354904.2:c.6734G>A	NP_001341833.1:p.Arg2245Lys
NM_001354905.2:c.6632G>A	NP_001341834.1:p.Arg2211Lys
NM_001354906.2:c.6263G>A	NP_001341835.1:p.Arg2088Lys