Canonical Allele Identifier: CA16028725

Gene: APC

Linked Data

• ClinVar Variation Id: 2720472
• ClinVar RCV Id: RCV003537888
• gnomAD v4: 5-112838967-G-C
• COSMIC: COSM4169476
• MyVariant Identifiers: chr5:g.112174664G>C (hg19) ; chr5:g.112838967G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838967G>C , CM000667.2:g.112838967G>C	GRCh38
NC_000005.9:g.112174664G>C , CM000667.1:g.112174664G>C	GRCh37
NC_000005.8:g.112202563G>C	NCBI36
NG_008481.4:g.151447G>C , LRG_130:g.151447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3038G>C	ENSP00000484935.2:n.3038G>C
ENST00000504915.3:c.3427G>C	ENSP00000473355.2:p.Val1143Leu
ENST00000505350.2:c.*3379G>C	ENSP00000481752.1:n.*3379G>C
ENST00000507379.6:c.3319G>C	ENSP00000423224.2:p.Val1107Leu
ENST00000509732.6:c.3373G>C	ENSP00000426541.2:p.Val1125Leu
ENST00000512211.7:c.3373G>C	ENSP00000423828.3:p.Val1125Leu
ENST00000257430.9:c.3373G>C MANE Select	ENSP00000257430.4:p.Val1125Leu
ENST00000257430.8:c.3373G>C	ENSP00000257430.4:p.Val1125Leu
ENST00000502371.2:c.1726G>C
ENST00000507379.5:c.3319G>C	ENSP00000423224.1:p.Val1107Leu
ENST00000508376.6:c.3373G>C	ENSP00000427089.2:p.Val1125Leu
ENST00000508624.5:c.*2695G>C	ENSP00000424265.1:n.*2695G>C
ENST00000512211.6:c.3373G>C	ENSP00000423828.2:p.Val1125Leu
ENST00000520401.1:c.230+9995G>C
NM_000038.5:c.3373G>C	NP_000029.2:p.Val1125Leu
NM_001127510.2:c.3373G>C	NP_001120982.1:p.Val1125Leu
NM_001127511.2:c.3319G>C	NP_001120983.2:p.Val1107Leu
NM_001354895.1:c.3373G>C	NP_001341824.1:p.Val1125Leu
NM_001354896.1:c.3427G>C	NP_001341825.1:p.Val1143Leu
NM_001354897.1:c.3403G>C	NP_001341826.1:p.Val1135Leu
NM_001354898.1:c.3298G>C	NP_001341827.1:p.Val1100Leu
NM_001354899.1:c.3289G>C	NP_001341828.1:p.Val1097Leu
NM_001354900.1:c.3250G>C	NP_001341829.1:p.Val1084Leu
NM_001354901.1:c.3196G>C	NP_001341830.1:p.Val1066Leu
NM_001354902.1:c.3100G>C	NP_001341831.1:p.Val1034Leu
NM_001354903.1:c.3070G>C	NP_001341832.1:p.Val1024Leu
NM_001354904.1:c.2995G>C	NP_001341833.1:p.Val999Leu
NM_001354905.1:c.2893G>C	NP_001341834.1:p.Val965Leu
NM_001354906.1:c.2524G>C	NP_001341835.1:p.Val842Leu
NM_000038.6:c.3373G>C MANE Select	NP_000029.2:p.Val1125Leu
NM_001127510.3:c.3373G>C	NP_001120982.1:p.Val1125Leu
NM_001127511.3:c.3319G>C	NP_001120983.2:p.Val1107Leu
NM_001354895.2:c.3373G>C	NP_001341824.1:p.Val1125Leu
NM_001354896.2:c.3427G>C	NP_001341825.1:p.Val1143Leu
NM_001354897.2:c.3403G>C	NP_001341826.1:p.Val1135Leu
NM_001354898.2:c.3298G>C	NP_001341827.1:p.Val1100Leu
NM_001354899.2:c.3289G>C	NP_001341828.1:p.Val1097Leu
NM_001354900.2:c.3250G>C	NP_001341829.1:p.Val1084Leu
NM_001354901.2:c.3196G>C	NP_001341830.1:p.Val1066Leu
NM_001354902.2:c.3100G>C	NP_001341831.1:p.Val1034Leu
NM_001354903.2:c.3070G>C	NP_001341832.1:p.Val1024Leu
NM_001354904.2:c.2995G>C	NP_001341833.1:p.Val999Leu
NM_001354905.2:c.2893G>C	NP_001341834.1:p.Val965Leu
NM_001354906.2:c.2524G>C	NP_001341835.1:p.Val842Leu