Canonical Allele Identifier: CA16039208

Gene: APC

Linked Data

• dbSNP Id: rs1766687162
• MyVariant Identifiers: chr5:g.112179527G>C (hg19) ; chr5:g.112843830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843830G>C , CM000667.2:g.112843830G>C	GRCh38
NC_000005.9:g.112179527G>C , CM000667.1:g.112179527G>C	GRCh37
NC_000005.8:g.112207426G>C	NCBI36
NG_008481.4:g.156310G>C , LRG_130:g.156310G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8290G>C	ENSP00000473355.2:p.Val2764Leu
ENST00000505350.2:c.*8242G>C	ENSP00000481752.1:n.*8242G>C
ENST00000507379.6:c.8182G>C	ENSP00000423224.2:p.Val2728Leu
ENST00000509732.6:c.8236G>C	ENSP00000426541.2:p.Val2746Leu
ENST00000512211.7:c.8236G>C	ENSP00000423828.3:p.Val2746Leu
ENST00000257430.9:c.8236G>C MANE Select	ENSP00000257430.4:p.Val2746Leu
ENST00000257430.8:c.8236G>C	ENSP00000257430.4:p.Val2746Leu
ENST00000508376.6:c.8236G>C	ENSP00000427089.2:p.Val2746Leu
ENST00000520401.1:c.231-12819G>C
NM_000038.5:c.8236G>C	NP_000029.2:p.Val2746Leu
NM_001127510.2:c.8236G>C	NP_001120982.1:p.Val2746Leu
NM_001127511.2:c.8182G>C	NP_001120983.2:p.Val2728Leu
NM_001354895.1:c.8236G>C	NP_001341824.1:p.Val2746Leu
NM_001354896.1:c.8290G>C	NP_001341825.1:p.Val2764Leu
NM_001354897.1:c.8266G>C	NP_001341826.1:p.Val2756Leu
NM_001354898.1:c.8161G>C	NP_001341827.1:p.Val2721Leu
NM_001354899.1:c.8152G>C	NP_001341828.1:p.Val2718Leu
NM_001354900.1:c.8113G>C	NP_001341829.1:p.Val2705Leu
NM_001354901.1:c.8059G>C	NP_001341830.1:p.Val2687Leu
NM_001354902.1:c.7963G>C	NP_001341831.1:p.Val2655Leu
NM_001354903.1:c.7933G>C	NP_001341832.1:p.Val2645Leu
NM_001354904.1:c.7858G>C	NP_001341833.1:p.Val2620Leu
NM_001354905.1:c.7756G>C	NP_001341834.1:p.Val2586Leu
NM_001354906.1:c.7387G>C	NP_001341835.1:p.Val2463Leu
NM_000038.6:c.8236G>C MANE Select	NP_000029.2:p.Val2746Leu
NM_001127510.3:c.8236G>C	NP_001120982.1:p.Val2746Leu
NM_001127511.3:c.8182G>C	NP_001120983.2:p.Val2728Leu
NM_001354895.2:c.8236G>C	NP_001341824.1:p.Val2746Leu
NM_001354896.2:c.8290G>C	NP_001341825.1:p.Val2764Leu
NM_001354897.2:c.8266G>C	NP_001341826.1:p.Val2756Leu
NM_001354898.2:c.8161G>C	NP_001341827.1:p.Val2721Leu
NM_001354899.2:c.8152G>C	NP_001341828.1:p.Val2718Leu
NM_001354900.2:c.8113G>C	NP_001341829.1:p.Val2705Leu
NM_001354901.2:c.8059G>C	NP_001341830.1:p.Val2687Leu
NM_001354902.2:c.7963G>C	NP_001341831.1:p.Val2655Leu
NM_001354903.2:c.7933G>C	NP_001341832.1:p.Val2645Leu
NM_001354904.2:c.7858G>C	NP_001341833.1:p.Val2620Leu
NM_001354905.2:c.7756G>C	NP_001341834.1:p.Val2586Leu
NM_001354906.2:c.7387G>C	NP_001341835.1:p.Val2463Leu