Canonical Allele Identifier: CA16028039

Gene: APC

Linked Data

• dbSNP Id: rs1765328284
• MyVariant Identifiers: chr5:g.112174353T>A (hg19) ; chr5:g.112838656T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838656T>A , CM000667.2:g.112838656T>A	GRCh38
NC_000005.9:g.112174353T>A , CM000667.1:g.112174353T>A	GRCh37
NC_000005.8:g.112202252T>A	NCBI36
NG_008481.4:g.151136T>A , LRG_130:g.151136T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2727T>A	ENSP00000484935.2:n.2727T>A
ENST00000504915.3:c.3116T>A	ENSP00000473355.2:p.Leu1039Gln
ENST00000505350.2:c.*3068T>A	ENSP00000481752.1:n.*3068T>A
ENST00000507379.6:c.3008T>A	ENSP00000423224.2:p.Leu1003Gln
ENST00000509732.6:c.3062T>A	ENSP00000426541.2:p.Leu1021Gln
ENST00000512211.7:c.3062T>A	ENSP00000423828.3:p.Leu1021Gln
ENST00000257430.9:c.3062T>A MANE Select	ENSP00000257430.4:p.Leu1021Gln
ENST00000257430.8:c.3062T>A	ENSP00000257430.4:p.Leu1021Gln
ENST00000502371.2:c.1415T>A
ENST00000507379.5:c.3008T>A	ENSP00000423224.1:p.Leu1003Gln
ENST00000508376.6:c.3062T>A	ENSP00000427089.2:p.Leu1021Gln
ENST00000508624.5:c.*2384T>A	ENSP00000424265.1:n.*2384T>A
ENST00000512211.6:c.3062T>A	ENSP00000423828.2:p.Leu1021Gln
ENST00000520401.1:c.230+9684T>A
NM_000038.5:c.3062T>A	NP_000029.2:p.Leu1021Gln
NM_001127510.2:c.3062T>A	NP_001120982.1:p.Leu1021Gln
NM_001127511.2:c.3008T>A	NP_001120983.2:p.Leu1003Gln
NM_001354895.1:c.3062T>A	NP_001341824.1:p.Leu1021Gln
NM_001354896.1:c.3116T>A	NP_001341825.1:p.Leu1039Gln
NM_001354897.1:c.3092T>A	NP_001341826.1:p.Leu1031Gln
NM_001354898.1:c.2987T>A	NP_001341827.1:p.Leu996Gln
NM_001354899.1:c.2978T>A	NP_001341828.1:p.Leu993Gln
NM_001354900.1:c.2939T>A	NP_001341829.1:p.Leu980Gln
NM_001354901.1:c.2885T>A	NP_001341830.1:p.Leu962Gln
NM_001354902.1:c.2789T>A	NP_001341831.1:p.Leu930Gln
NM_001354903.1:c.2759T>A	NP_001341832.1:p.Leu920Gln
NM_001354904.1:c.2684T>A	NP_001341833.1:p.Leu895Gln
NM_001354905.1:c.2582T>A	NP_001341834.1:p.Leu861Gln
NM_001354906.1:c.2213T>A	NP_001341835.1:p.Leu738Gln
NM_000038.6:c.3062T>A MANE Select	NP_000029.2:p.Leu1021Gln
NM_001127510.3:c.3062T>A	NP_001120982.1:p.Leu1021Gln
NM_001127511.3:c.3008T>A	NP_001120983.2:p.Leu1003Gln
NM_001354895.2:c.3062T>A	NP_001341824.1:p.Leu1021Gln
NM_001354896.2:c.3116T>A	NP_001341825.1:p.Leu1039Gln
NM_001354897.2:c.3092T>A	NP_001341826.1:p.Leu1031Gln
NM_001354898.2:c.2987T>A	NP_001341827.1:p.Leu996Gln
NM_001354899.2:c.2978T>A	NP_001341828.1:p.Leu993Gln
NM_001354900.2:c.2939T>A	NP_001341829.1:p.Leu980Gln
NM_001354901.2:c.2885T>A	NP_001341830.1:p.Leu962Gln
NM_001354902.2:c.2789T>A	NP_001341831.1:p.Leu930Gln
NM_001354903.2:c.2759T>A	NP_001341832.1:p.Leu920Gln
NM_001354904.2:c.2684T>A	NP_001341833.1:p.Leu895Gln
NM_001354905.2:c.2582T>A	NP_001341834.1:p.Leu861Gln
NM_001354906.2:c.2213T>A	NP_001341835.1:p.Leu738Gln