Canonical Allele Identifier: CA16036342

Gene: APC

Linked Data

• ClinVar Variation Id: 2567068
• ClinVar RCV Id: RCV003311060
• dbSNP Id: rs1299914025
• MyVariant Identifiers: chr5:g.112178169G>C (hg19) ; chr5:g.112842472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842472G>C , CM000667.2:g.112842472G>C	GRCh38
NC_000005.9:g.112178169G>C , CM000667.1:g.112178169G>C	GRCh37
NC_000005.8:g.112206068G>C	NCBI36
NG_008481.4:g.154952G>C , LRG_130:g.154952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6932G>C	ENSP00000473355.2:p.Gly2311Ala
ENST00000505350.2:c.*6884G>C	ENSP00000481752.1:n.*6884G>C
ENST00000507379.6:c.6824G>C	ENSP00000423224.2:p.Gly2275Ala
ENST00000509732.6:c.6878G>C	ENSP00000426541.2:p.Gly2293Ala
ENST00000512211.7:c.6878G>C	ENSP00000423828.3:p.Gly2293Ala
ENST00000257430.9:c.6878G>C MANE Select	ENSP00000257430.4:p.Gly2293Ala
ENST00000257430.8:c.6878G>C	ENSP00000257430.4:p.Gly2293Ala
ENST00000508376.6:c.6878G>C	ENSP00000427089.2:p.Gly2293Ala
ENST00000508624.5:c.*6200G>C	ENSP00000424265.1:n.*6200G>C
ENST00000520401.1:c.230+13500G>C
NM_000038.5:c.6878G>C	NP_000029.2:p.Gly2293Ala
NM_001127510.2:c.6878G>C	NP_001120982.1:p.Gly2293Ala
NM_001127511.2:c.6824G>C	NP_001120983.2:p.Gly2275Ala
NM_001354895.1:c.6878G>C	NP_001341824.1:p.Gly2293Ala
NM_001354896.1:c.6932G>C	NP_001341825.1:p.Gly2311Ala
NM_001354897.1:c.6908G>C	NP_001341826.1:p.Gly2303Ala
NM_001354898.1:c.6803G>C	NP_001341827.1:p.Gly2268Ala
NM_001354899.1:c.6794G>C	NP_001341828.1:p.Gly2265Ala
NM_001354900.1:c.6755G>C	NP_001341829.1:p.Gly2252Ala
NM_001354901.1:c.6701G>C	NP_001341830.1:p.Gly2234Ala
NM_001354902.1:c.6605G>C	NP_001341831.1:p.Gly2202Ala
NM_001354903.1:c.6575G>C	NP_001341832.1:p.Gly2192Ala
NM_001354904.1:c.6500G>C	NP_001341833.1:p.Gly2167Ala
NM_001354905.1:c.6398G>C	NP_001341834.1:p.Gly2133Ala
NM_001354906.1:c.6029G>C	NP_001341835.1:p.Gly2010Ala
NM_000038.6:c.6878G>C MANE Select	NP_000029.2:p.Gly2293Ala
NM_001127510.3:c.6878G>C	NP_001120982.1:p.Gly2293Ala
NM_001127511.3:c.6824G>C	NP_001120983.2:p.Gly2275Ala
NM_001354895.2:c.6878G>C	NP_001341824.1:p.Gly2293Ala
NM_001354896.2:c.6932G>C	NP_001341825.1:p.Gly2311Ala
NM_001354897.2:c.6908G>C	NP_001341826.1:p.Gly2303Ala
NM_001354898.2:c.6803G>C	NP_001341827.1:p.Gly2268Ala
NM_001354899.2:c.6794G>C	NP_001341828.1:p.Gly2265Ala
NM_001354900.2:c.6755G>C	NP_001341829.1:p.Gly2252Ala
NM_001354901.2:c.6701G>C	NP_001341830.1:p.Gly2234Ala
NM_001354902.2:c.6605G>C	NP_001341831.1:p.Gly2202Ala
NM_001354903.2:c.6575G>C	NP_001341832.1:p.Gly2192Ala
NM_001354904.2:c.6500G>C	NP_001341833.1:p.Gly2167Ala
NM_001354905.2:c.6398G>C	NP_001341834.1:p.Gly2133Ala
NM_001354906.2:c.6029G>C	NP_001341835.1:p.Gly2010Ala