Canonical Allele Identifier: CA16028818

Gene: APC

Linked Data

• ClinVar Variation Id: 840675
• ClinVar RCV Id: RCV002551518
• dbSNP Id: rs201550951
• MyVariant Identifiers: chr5:g.112174706A>G (hg19) ; chr5:g.112839009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839009A>G , CM000667.2:g.112839009A>G	GRCh38
NC_000005.9:g.112174706A>G , CM000667.1:g.112174706A>G	GRCh37
NC_000005.8:g.112202605A>G	NCBI36
NG_008481.4:g.151489A>G , LRG_130:g.151489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3080A>G	ENSP00000484935.2:n.3080A>G
ENST00000504915.3:c.3469A>G	ENSP00000473355.2:p.Lys1157Glu
ENST00000505350.2:c.*3421A>G	ENSP00000481752.1:n.*3421A>G
ENST00000507379.6:c.3361A>G	ENSP00000423224.2:p.Lys1121Glu
ENST00000509732.6:c.3415A>G	ENSP00000426541.2:p.Lys1139Glu
ENST00000512211.7:c.3415A>G	ENSP00000423828.3:p.Lys1139Glu
ENST00000257430.9:c.3415A>G MANE Select	ENSP00000257430.4:p.Lys1139Glu
ENST00000257430.8:c.3415A>G	ENSP00000257430.4:p.Lys1139Glu
ENST00000502371.2:c.1768A>G
ENST00000507379.5:c.3361A>G	ENSP00000423224.1:p.Lys1121Glu
ENST00000508376.6:c.3415A>G	ENSP00000427089.2:p.Lys1139Glu
ENST00000508624.5:c.*2737A>G	ENSP00000424265.1:n.*2737A>G
ENST00000512211.6:c.3415A>G	ENSP00000423828.2:p.Lys1139Glu
ENST00000520401.1:c.230+10037A>G
NM_000038.5:c.3415A>G	NP_000029.2:p.Lys1139Glu
NM_001127510.2:c.3415A>G	NP_001120982.1:p.Lys1139Glu
NM_001127511.2:c.3361A>G	NP_001120983.2:p.Lys1121Glu
NM_001354895.1:c.3415A>G	NP_001341824.1:p.Lys1139Glu
NM_001354896.1:c.3469A>G	NP_001341825.1:p.Lys1157Glu
NM_001354897.1:c.3445A>G	NP_001341826.1:p.Lys1149Glu
NM_001354898.1:c.3340A>G	NP_001341827.1:p.Lys1114Glu
NM_001354899.1:c.3331A>G	NP_001341828.1:p.Lys1111Glu
NM_001354900.1:c.3292A>G	NP_001341829.1:p.Lys1098Glu
NM_001354901.1:c.3238A>G	NP_001341830.1:p.Lys1080Glu
NM_001354902.1:c.3142A>G	NP_001341831.1:p.Lys1048Glu
NM_001354903.1:c.3112A>G	NP_001341832.1:p.Lys1038Glu
NM_001354904.1:c.3037A>G	NP_001341833.1:p.Lys1013Glu
NM_001354905.1:c.2935A>G	NP_001341834.1:p.Lys979Glu
NM_001354906.1:c.2566A>G	NP_001341835.1:p.Lys856Glu
NM_000038.6:c.3415A>G MANE Select	NP_000029.2:p.Lys1139Glu
NM_001127510.3:c.3415A>G	NP_001120982.1:p.Lys1139Glu
NM_001127511.3:c.3361A>G	NP_001120983.2:p.Lys1121Glu
NM_001354895.2:c.3415A>G	NP_001341824.1:p.Lys1139Glu
NM_001354896.2:c.3469A>G	NP_001341825.1:p.Lys1157Glu
NM_001354897.2:c.3445A>G	NP_001341826.1:p.Lys1149Glu
NM_001354898.2:c.3340A>G	NP_001341827.1:p.Lys1114Glu
NM_001354899.2:c.3331A>G	NP_001341828.1:p.Lys1111Glu
NM_001354900.2:c.3292A>G	NP_001341829.1:p.Lys1098Glu
NM_001354901.2:c.3238A>G	NP_001341830.1:p.Lys1080Glu
NM_001354902.2:c.3142A>G	NP_001341831.1:p.Lys1048Glu
NM_001354903.2:c.3112A>G	NP_001341832.1:p.Lys1038Glu
NM_001354904.2:c.3037A>G	NP_001341833.1:p.Lys1013Glu
NM_001354905.2:c.2935A>G	NP_001341834.1:p.Lys979Glu
NM_001354906.2:c.2566A>G	NP_001341835.1:p.Lys856Glu