Canonical Allele Identifier: CA16034721

Gene: APC

Linked Data

• dbSNP Id: rs372418435
• MyVariant Identifiers: chr5:g.112177408G>C (hg19) ; chr5:g.112841711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841711G>C , CM000667.2:g.112841711G>C	GRCh38
NC_000005.9:g.112177408G>C , CM000667.1:g.112177408G>C	GRCh37
NC_000005.8:g.112205307G>C	NCBI36
NG_008481.4:g.154191G>C , LRG_130:g.154191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6171G>C	ENSP00000473355.2:p.Leu2057Phe
ENST00000505350.2:c.*6123G>C	ENSP00000481752.1:n.*6123G>C
ENST00000507379.6:c.6063G>C	ENSP00000423224.2:p.Leu2021Phe
ENST00000509732.6:c.6117G>C	ENSP00000426541.2:p.Leu2039Phe
ENST00000512211.7:c.6117G>C	ENSP00000423828.3:p.Leu2039Phe
ENST00000257430.9:c.6117G>C MANE Select	ENSP00000257430.4:p.Leu2039Phe
ENST00000257430.8:c.6117G>C	ENSP00000257430.4:p.Leu2039Phe
ENST00000508376.6:c.6117G>C	ENSP00000427089.2:p.Leu2039Phe
ENST00000508624.5:c.*5439G>C	ENSP00000424265.1:n.*5439G>C
ENST00000520401.1:c.230+12739G>C
NM_000038.5:c.6117G>C	NP_000029.2:p.Leu2039Phe
NM_001127510.2:c.6117G>C	NP_001120982.1:p.Leu2039Phe
NM_001127511.2:c.6063G>C	NP_001120983.2:p.Leu2021Phe
NM_001354895.1:c.6117G>C	NP_001341824.1:p.Leu2039Phe
NM_001354896.1:c.6171G>C	NP_001341825.1:p.Leu2057Phe
NM_001354897.1:c.6147G>C	NP_001341826.1:p.Leu2049Phe
NM_001354898.1:c.6042G>C	NP_001341827.1:p.Leu2014Phe
NM_001354899.1:c.6033G>C	NP_001341828.1:p.Leu2011Phe
NM_001354900.1:c.5994G>C	NP_001341829.1:p.Leu1998Phe
NM_001354901.1:c.5940G>C	NP_001341830.1:p.Leu1980Phe
NM_001354902.1:c.5844G>C	NP_001341831.1:p.Leu1948Phe
NM_001354903.1:c.5814G>C	NP_001341832.1:p.Leu1938Phe
NM_001354904.1:c.5739G>C	NP_001341833.1:p.Leu1913Phe
NM_001354905.1:c.5637G>C	NP_001341834.1:p.Leu1879Phe
NM_001354906.1:c.5268G>C	NP_001341835.1:p.Leu1756Phe
NM_000038.6:c.6117G>C MANE Select	NP_000029.2:p.Leu2039Phe
NM_001127510.3:c.6117G>C	NP_001120982.1:p.Leu2039Phe
NM_001127511.3:c.6063G>C	NP_001120983.2:p.Leu2021Phe
NM_001354895.2:c.6117G>C	NP_001341824.1:p.Leu2039Phe
NM_001354896.2:c.6171G>C	NP_001341825.1:p.Leu2057Phe
NM_001354897.2:c.6147G>C	NP_001341826.1:p.Leu2049Phe
NM_001354898.2:c.6042G>C	NP_001341827.1:p.Leu2014Phe
NM_001354899.2:c.6033G>C	NP_001341828.1:p.Leu2011Phe
NM_001354900.2:c.5994G>C	NP_001341829.1:p.Leu1998Phe
NM_001354901.2:c.5940G>C	NP_001341830.1:p.Leu1980Phe
NM_001354902.2:c.5844G>C	NP_001341831.1:p.Leu1948Phe
NM_001354903.2:c.5814G>C	NP_001341832.1:p.Leu1938Phe
NM_001354904.2:c.5739G>C	NP_001341833.1:p.Leu1913Phe
NM_001354905.2:c.5637G>C	NP_001341834.1:p.Leu1879Phe
NM_001354906.2:c.5268G>C	NP_001341835.1:p.Leu1756Phe