Canonical Allele Identifier: CA16032445

Gene: APC

Linked Data

• ClinVar Variation Id: 1421607
• ClinVar RCV Id: RCV002558421
• dbSNP Id: rs2149931607
• MyVariant Identifiers: chr5:g.112176375G>C (hg19) ; chr5:g.112840678G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840678G>C , CM000667.2:g.112840678G>C	GRCh38
NC_000005.9:g.112176375G>C , CM000667.1:g.112176375G>C	GRCh37
NC_000005.8:g.112204274G>C	NCBI36
NG_008481.4:g.153158G>C , LRG_130:g.153158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5138G>C	ENSP00000473355.2:p.Arg1713Thr
ENST00000505350.2:c.*5090G>C	ENSP00000481752.1:n.*5090G>C
ENST00000507379.6:c.5030G>C	ENSP00000423224.2:p.Arg1677Thr
ENST00000509732.6:c.5084G>C	ENSP00000426541.2:p.Arg1695Thr
ENST00000512211.7:c.5084G>C	ENSP00000423828.3:p.Arg1695Thr
ENST00000257430.9:c.5084G>C MANE Select	ENSP00000257430.4:p.Arg1695Thr
ENST00000257430.8:c.5084G>C	ENSP00000257430.4:p.Arg1695Thr
ENST00000508376.6:c.5084G>C	ENSP00000427089.2:p.Arg1695Thr
ENST00000508624.5:c.*4406G>C	ENSP00000424265.1:n.*4406G>C
ENST00000520401.1:c.230+11706G>C
NM_000038.5:c.5084G>C	NP_000029.2:p.Arg1695Thr
NM_001127510.2:c.5084G>C	NP_001120982.1:p.Arg1695Thr
NM_001127511.2:c.5030G>C	NP_001120983.2:p.Arg1677Thr
NM_001354895.1:c.5084G>C	NP_001341824.1:p.Arg1695Thr
NM_001354896.1:c.5138G>C	NP_001341825.1:p.Arg1713Thr
NM_001354897.1:c.5114G>C	NP_001341826.1:p.Arg1705Thr
NM_001354898.1:c.5009G>C	NP_001341827.1:p.Arg1670Thr
NM_001354899.1:c.5000G>C	NP_001341828.1:p.Arg1667Thr
NM_001354900.1:c.4961G>C	NP_001341829.1:p.Arg1654Thr
NM_001354901.1:c.4907G>C	NP_001341830.1:p.Arg1636Thr
NM_001354902.1:c.4811G>C	NP_001341831.1:p.Arg1604Thr
NM_001354903.1:c.4781G>C	NP_001341832.1:p.Arg1594Thr
NM_001354904.1:c.4706G>C	NP_001341833.1:p.Arg1569Thr
NM_001354905.1:c.4604G>C	NP_001341834.1:p.Arg1535Thr
NM_001354906.1:c.4235G>C	NP_001341835.1:p.Arg1412Thr
NM_000038.6:c.5084G>C MANE Select	NP_000029.2:p.Arg1695Thr
NM_001127510.3:c.5084G>C	NP_001120982.1:p.Arg1695Thr
NM_001127511.3:c.5030G>C	NP_001120983.2:p.Arg1677Thr
NM_001354895.2:c.5084G>C	NP_001341824.1:p.Arg1695Thr
NM_001354896.2:c.5138G>C	NP_001341825.1:p.Arg1713Thr
NM_001354897.2:c.5114G>C	NP_001341826.1:p.Arg1705Thr
NM_001354898.2:c.5009G>C	NP_001341827.1:p.Arg1670Thr
NM_001354899.2:c.5000G>C	NP_001341828.1:p.Arg1667Thr
NM_001354900.2:c.4961G>C	NP_001341829.1:p.Arg1654Thr
NM_001354901.2:c.4907G>C	NP_001341830.1:p.Arg1636Thr
NM_001354902.2:c.4811G>C	NP_001341831.1:p.Arg1604Thr
NM_001354903.2:c.4781G>C	NP_001341832.1:p.Arg1594Thr
NM_001354904.2:c.4706G>C	NP_001341833.1:p.Arg1569Thr
NM_001354905.2:c.4604G>C	NP_001341834.1:p.Arg1535Thr
NM_001354906.2:c.4235G>C	NP_001341835.1:p.Arg1412Thr