Canonical Allele Identifier: CA348296

Gene: APC

Linked Data

• ClinVar Variation Id: 220569
• ClinVar RCV Id: RCV000204027 ; RCV001018168 ; RCV003997646
• dbSNP Id: rs864622584
• gnomAD v4: 5-112838623-G-A
• MyVariant Identifiers: chr5:g.112174320G>A (hg19) ; chr5:g.112838623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838623G>A , CM000667.2:g.112838623G>A	GRCh38
NC_000005.9:g.112174320G>A , CM000667.1:g.112174320G>A	GRCh37
NC_000005.8:g.112202219G>A	NCBI36
NG_008481.4:g.151103G>A , LRG_130:g.151103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2694G>A	ENSP00000484935.2:n.2694G>A
ENST00000504915.3:c.3083G>A	ENSP00000473355.2:p.Ser1028Asn
ENST00000505350.2:c.*3035G>A	ENSP00000481752.1:n.*3035G>A
ENST00000507379.6:c.2975G>A	ENSP00000423224.2:p.Ser992Asn
ENST00000509732.6:c.3029G>A	ENSP00000426541.2:p.Ser1010Asn
ENST00000512211.7:c.3029G>A	ENSP00000423828.3:p.Ser1010Asn
ENST00000257430.9:c.3029G>A MANE Select	ENSP00000257430.4:p.Ser1010Asn
ENST00000257430.8:c.3029G>A	ENSP00000257430.4:p.Ser1010Asn
ENST00000502371.2:c.1382G>A
ENST00000507379.5:c.2975G>A	ENSP00000423224.1:p.Ser992Asn
ENST00000508376.6:c.3029G>A	ENSP00000427089.2:p.Ser1010Asn
ENST00000508624.5:c.*2351G>A	ENSP00000424265.1:n.*2351G>A
ENST00000512211.6:c.3029G>A	ENSP00000423828.2:p.Ser1010Asn
ENST00000520401.1:c.230+9651G>A
NM_000038.5:c.3029G>A	NP_000029.2:p.Ser1010Asn
NM_001127510.2:c.3029G>A	NP_001120982.1:p.Ser1010Asn
NM_001127511.2:c.2975G>A	NP_001120983.2:p.Ser992Asn
NM_001354895.1:c.3029G>A	NP_001341824.1:p.Ser1010Asn
NM_001354896.1:c.3083G>A	NP_001341825.1:p.Ser1028Asn
NM_001354897.1:c.3059G>A	NP_001341826.1:p.Ser1020Asn
NM_001354898.1:c.2954G>A	NP_001341827.1:p.Ser985Asn
NM_001354899.1:c.2945G>A	NP_001341828.1:p.Ser982Asn
NM_001354900.1:c.2906G>A	NP_001341829.1:p.Ser969Asn
NM_001354901.1:c.2852G>A	NP_001341830.1:p.Ser951Asn
NM_001354902.1:c.2756G>A	NP_001341831.1:p.Ser919Asn
NM_001354903.1:c.2726G>A	NP_001341832.1:p.Ser909Asn
NM_001354904.1:c.2651G>A	NP_001341833.1:p.Ser884Asn
NM_001354905.1:c.2549G>A	NP_001341834.1:p.Ser850Asn
NM_001354906.1:c.2180G>A	NP_001341835.1:p.Ser727Asn
NM_000038.6:c.3029G>A MANE Select	NP_000029.2:p.Ser1010Asn
NM_001127510.3:c.3029G>A	NP_001120982.1:p.Ser1010Asn
NM_001127511.3:c.2975G>A	NP_001120983.2:p.Ser992Asn
NM_001354895.2:c.3029G>A	NP_001341824.1:p.Ser1010Asn
NM_001354896.2:c.3083G>A	NP_001341825.1:p.Ser1028Asn
NM_001354897.2:c.3059G>A	NP_001341826.1:p.Ser1020Asn
NM_001354898.2:c.2954G>A	NP_001341827.1:p.Ser985Asn
NM_001354899.2:c.2945G>A	NP_001341828.1:p.Ser982Asn
NM_001354900.2:c.2906G>A	NP_001341829.1:p.Ser969Asn
NM_001354901.2:c.2852G>A	NP_001341830.1:p.Ser951Asn
NM_001354902.2:c.2756G>A	NP_001341831.1:p.Ser919Asn
NM_001354903.2:c.2726G>A	NP_001341832.1:p.Ser909Asn
NM_001354904.2:c.2651G>A	NP_001341833.1:p.Ser884Asn
NM_001354905.2:c.2549G>A	NP_001341834.1:p.Ser850Asn
NM_001354906.2:c.2180G>A	NP_001341835.1:p.Ser727Asn