Canonical Allele Identifier: CA16032744

Gene: APC

Linked Data

• dbSNP Id: rs2149935043
• MyVariant Identifiers: chr5:g.112176512T>C (hg19) ; chr5:g.112840815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840815T>C , CM000667.2:g.112840815T>C	GRCh38
NC_000005.9:g.112176512T>C , CM000667.1:g.112176512T>C	GRCh37
NC_000005.8:g.112204411T>C	NCBI36
NG_008481.4:g.153295T>C , LRG_130:g.153295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5275T>C	ENSP00000473355.2:p.Phe1759Leu
ENST00000505350.2:c.*5227T>C	ENSP00000481752.1:n.*5227T>C
ENST00000507379.6:c.5167T>C	ENSP00000423224.2:p.Phe1723Leu
ENST00000509732.6:c.5221T>C	ENSP00000426541.2:p.Phe1741Leu
ENST00000512211.7:c.5221T>C	ENSP00000423828.3:p.Phe1741Leu
ENST00000257430.9:c.5221T>C MANE Select	ENSP00000257430.4:p.Phe1741Leu
ENST00000257430.8:c.5221T>C	ENSP00000257430.4:p.Phe1741Leu
ENST00000508376.6:c.5221T>C	ENSP00000427089.2:p.Phe1741Leu
ENST00000508624.5:c.*4543T>C	ENSP00000424265.1:n.*4543T>C
ENST00000520401.1:c.230+11843T>C
NM_000038.5:c.5221T>C	NP_000029.2:p.Phe1741Leu
NM_001127510.2:c.5221T>C	NP_001120982.1:p.Phe1741Leu
NM_001127511.2:c.5167T>C	NP_001120983.2:p.Phe1723Leu
NM_001354895.1:c.5221T>C	NP_001341824.1:p.Phe1741Leu
NM_001354896.1:c.5275T>C	NP_001341825.1:p.Phe1759Leu
NM_001354897.1:c.5251T>C	NP_001341826.1:p.Phe1751Leu
NM_001354898.1:c.5146T>C	NP_001341827.1:p.Phe1716Leu
NM_001354899.1:c.5137T>C	NP_001341828.1:p.Phe1713Leu
NM_001354900.1:c.5098T>C	NP_001341829.1:p.Phe1700Leu
NM_001354901.1:c.5044T>C	NP_001341830.1:p.Phe1682Leu
NM_001354902.1:c.4948T>C	NP_001341831.1:p.Phe1650Leu
NM_001354903.1:c.4918T>C	NP_001341832.1:p.Phe1640Leu
NM_001354904.1:c.4843T>C	NP_001341833.1:p.Phe1615Leu
NM_001354905.1:c.4741T>C	NP_001341834.1:p.Phe1581Leu
NM_001354906.1:c.4372T>C	NP_001341835.1:p.Phe1458Leu
NM_000038.6:c.5221T>C MANE Select	NP_000029.2:p.Phe1741Leu
NM_001127510.3:c.5221T>C	NP_001120982.1:p.Phe1741Leu
NM_001127511.3:c.5167T>C	NP_001120983.2:p.Phe1723Leu
NM_001354895.2:c.5221T>C	NP_001341824.1:p.Phe1741Leu
NM_001354896.2:c.5275T>C	NP_001341825.1:p.Phe1759Leu
NM_001354897.2:c.5251T>C	NP_001341826.1:p.Phe1751Leu
NM_001354898.2:c.5146T>C	NP_001341827.1:p.Phe1716Leu
NM_001354899.2:c.5137T>C	NP_001341828.1:p.Phe1713Leu
NM_001354900.2:c.5098T>C	NP_001341829.1:p.Phe1700Leu
NM_001354901.2:c.5044T>C	NP_001341830.1:p.Phe1682Leu
NM_001354902.2:c.4948T>C	NP_001341831.1:p.Phe1650Leu
NM_001354903.2:c.4918T>C	NP_001341832.1:p.Phe1640Leu
NM_001354904.2:c.4843T>C	NP_001341833.1:p.Phe1615Leu
NM_001354905.2:c.4741T>C	NP_001341834.1:p.Phe1581Leu
NM_001354906.2:c.4372T>C	NP_001341835.1:p.Phe1458Leu