Canonical Allele Identifier: CA049883

Gene: APC

Linked Data

• ClinVar Variation Id: 1058507
• ClinVar RCV Id: RCV002420816 ; RCV002548595
• dbSNP Id: rs758069998
• ExAC: 5:112137055 A / C
• gnomAD v2: 5-112137055-A-C
• gnomAD v3: 5-112801358-A-C
• gnomAD v4: 5-112801358-A-C
• MyVariant Identifiers: chr5:g.112137055A>C (hg19) ; chr5:g.112801358A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112801358A>C , CM000667.2:g.112801358A>C	GRCh38
NC_000005.9:g.112137055A>C , CM000667.1:g.112137055A>C	GRCh37
NC_000005.8:g.112164954A>C	NCBI36
NG_008481.4:g.113838A>C , LRG_130:g.113838A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.809A>C	ENSP00000484935.2:p.Asn270Thr
ENST00000504915.3:c.809A>C	ENSP00000473355.2:p.Asn270Thr
ENST00000505084.2:n.865A>C
ENST00000505350.2:c.*815A>C	ENSP00000481752.1:n.*815A>C
ENST00000507379.6:c.755A>C	ENSP00000423224.2:p.Asn252Thr
ENST00000509732.6:c.809A>C	ENSP00000426541.2:p.Asn270Thr
ENST00000512211.7:c.809A>C	ENSP00000423828.3:p.Asn270Thr
ENST00000257430.9:c.809A>C MANE Select	ENSP00000257430.4:p.Asn270Thr
ENST00000257430.8:c.809A>C	ENSP00000257430.4:p.Asn270Thr
ENST00000507379.5:c.755A>C	ENSP00000423224.1:p.Asn252Thr
ENST00000508376.6:c.809A>C	ENSP00000427089.2:p.Asn270Thr
ENST00000508624.5:c.809A>C	ENSP00000424265.1:p.Asn270Thr
ENST00000512211.6:c.809A>C	ENSP00000423828.2:p.Asn270Thr
NM_000038.5:c.809A>C	NP_000029.2:p.Asn270Thr
NM_001127510.2:c.809A>C	NP_001120982.1:p.Asn270Thr
NM_001127511.2:c.755A>C	NP_001120983.2:p.Asn252Thr
NM_001354895.1:c.809A>C	NP_001341824.1:p.Asn270Thr
NM_001354896.1:c.809A>C	NP_001341825.1:p.Asn270Thr
NM_001354897.1:c.839A>C	NP_001341826.1:p.Asn280Thr
NM_001354898.1:c.734A>C	NP_001341827.1:p.Asn245Thr
NM_001354899.1:c.725A>C	NP_001341828.1:p.Asn242Thr
NM_001354900.1:c.632A>C	NP_001341829.1:p.Asn211Thr
NM_001354901.1:c.632A>C	NP_001341830.1:p.Asn211Thr
NM_001354902.1:c.839A>C	NP_001341831.1:p.Asn280Thr
NM_001354903.1:c.809A>C	NP_001341832.1:p.Asn270Thr
NM_001354904.1:c.734A>C	NP_001341833.1:p.Asn245Thr
NM_001354905.1:c.632A>C	NP_001341834.1:p.Asn211Thr
NM_001354906.1:c.-227A>C	NP_001341835.1:n.-227A>C
NM_000038.6:c.809A>C MANE Select	NP_000029.2:p.Asn270Thr
NM_001127510.3:c.809A>C	NP_001120982.1:p.Asn270Thr
NM_001127511.3:c.755A>C	NP_001120983.2:p.Asn252Thr
NM_001354895.2:c.809A>C	NP_001341824.1:p.Asn270Thr
NM_001354896.2:c.809A>C	NP_001341825.1:p.Asn270Thr
NM_001354897.2:c.839A>C	NP_001341826.1:p.Asn280Thr
NM_001354898.2:c.734A>C	NP_001341827.1:p.Asn245Thr
NM_001354899.2:c.725A>C	NP_001341828.1:p.Asn242Thr
NM_001354900.2:c.632A>C	NP_001341829.1:p.Asn211Thr
NM_001354901.2:c.632A>C	NP_001341830.1:p.Asn211Thr
NM_001354902.2:c.839A>C	NP_001341831.1:p.Asn280Thr
NM_001354903.2:c.809A>C	NP_001341832.1:p.Asn270Thr
NM_001354904.2:c.734A>C	NP_001341833.1:p.Asn245Thr
NM_001354905.2:c.632A>C	NP_001341834.1:p.Asn211Thr
NM_001354906.2:c.-227A>C	NP_001341835.1:n.-227A>C