Canonical Allele Identifier: CA16038677

Gene: APC

Linked Data

• ClinVar Variation Id: 2001344
• ClinVar RCV Id: RCV003742896
• dbSNP Id: rs1486622959
• MyVariant Identifiers: chr5:g.112179278G>A (hg19) ; chr5:g.112843581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843581G>A , CM000667.2:g.112843581G>A	GRCh38
NC_000005.9:g.112179278G>A , CM000667.1:g.112179278G>A	GRCh37
NC_000005.8:g.112207177G>A	NCBI36
NG_008481.4:g.156061G>A , LRG_130:g.156061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8041G>A	ENSP00000473355.2:p.Asp2681Asn
ENST00000505350.2:c.*7993G>A	ENSP00000481752.1:n.*7993G>A
ENST00000507379.6:c.7933G>A	ENSP00000423224.2:p.Asp2645Asn
ENST00000509732.6:c.7987G>A	ENSP00000426541.2:p.Asp2663Asn
ENST00000512211.7:c.7987G>A	ENSP00000423828.3:p.Asp2663Asn
ENST00000257430.9:c.7987G>A MANE Select	ENSP00000257430.4:p.Asp2663Asn
ENST00000257430.8:c.7987G>A	ENSP00000257430.4:p.Asp2663Asn
ENST00000508376.6:c.7987G>A	ENSP00000427089.2:p.Asp2663Asn
ENST00000520401.1:c.231-13068G>A
NM_000038.5:c.7987G>A	NP_000029.2:p.Asp2663Asn
NM_001127510.2:c.7987G>A	NP_001120982.1:p.Asp2663Asn
NM_001127511.2:c.7933G>A	NP_001120983.2:p.Asp2645Asn
NM_001354895.1:c.7987G>A	NP_001341824.1:p.Asp2663Asn
NM_001354896.1:c.8041G>A	NP_001341825.1:p.Asp2681Asn
NM_001354897.1:c.8017G>A	NP_001341826.1:p.Asp2673Asn
NM_001354898.1:c.7912G>A	NP_001341827.1:p.Asp2638Asn
NM_001354899.1:c.7903G>A	NP_001341828.1:p.Asp2635Asn
NM_001354900.1:c.7864G>A	NP_001341829.1:p.Asp2622Asn
NM_001354901.1:c.7810G>A	NP_001341830.1:p.Asp2604Asn
NM_001354902.1:c.7714G>A	NP_001341831.1:p.Asp2572Asn
NM_001354903.1:c.7684G>A	NP_001341832.1:p.Asp2562Asn
NM_001354904.1:c.7609G>A	NP_001341833.1:p.Asp2537Asn
NM_001354905.1:c.7507G>A	NP_001341834.1:p.Asp2503Asn
NM_001354906.1:c.7138G>A	NP_001341835.1:p.Asp2380Asn
NM_000038.6:c.7987G>A MANE Select	NP_000029.2:p.Asp2663Asn
NM_001127510.3:c.7987G>A	NP_001120982.1:p.Asp2663Asn
NM_001127511.3:c.7933G>A	NP_001120983.2:p.Asp2645Asn
NM_001354895.2:c.7987G>A	NP_001341824.1:p.Asp2663Asn
NM_001354896.2:c.8041G>A	NP_001341825.1:p.Asp2681Asn
NM_001354897.2:c.8017G>A	NP_001341826.1:p.Asp2673Asn
NM_001354898.2:c.7912G>A	NP_001341827.1:p.Asp2638Asn
NM_001354899.2:c.7903G>A	NP_001341828.1:p.Asp2635Asn
NM_001354900.2:c.7864G>A	NP_001341829.1:p.Asp2622Asn
NM_001354901.2:c.7810G>A	NP_001341830.1:p.Asp2604Asn
NM_001354902.2:c.7714G>A	NP_001341831.1:p.Asp2572Asn
NM_001354903.2:c.7684G>A	NP_001341832.1:p.Asp2562Asn
NM_001354904.2:c.7609G>A	NP_001341833.1:p.Asp2537Asn
NM_001354905.2:c.7507G>A	NP_001341834.1:p.Asp2503Asn
NM_001354906.2:c.7138G>A	NP_001341835.1:p.Asp2380Asn