Canonical Allele Identifier: CA16033116

Gene: APC

Linked Data

• ClinVar Variation Id: 438881
• ClinVar RCV Id: RCV000506574
• dbSNP Id: rs200794097
• gnomAD v4: 5-112840986-A-C
• MyVariant Identifiers: chr5:g.112176683A>C (hg19) ; chr5:g.112840986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840986A>C , CM000667.2:g.112840986A>C	GRCh38
NC_000005.9:g.112176683A>C , CM000667.1:g.112176683A>C	GRCh37
NC_000005.8:g.112204582A>C	NCBI36
NG_008481.4:g.153466A>C , LRG_130:g.153466A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5446A>C	ENSP00000473355.2:p.Asn1816His
ENST00000505350.2:c.*5398A>C	ENSP00000481752.1:n.*5398A>C
ENST00000507379.6:c.5338A>C	ENSP00000423224.2:p.Asn1780His
ENST00000509732.6:c.5392A>C	ENSP00000426541.2:p.Asn1798His
ENST00000512211.7:c.5392A>C	ENSP00000423828.3:p.Asn1798His
ENST00000257430.9:c.5392A>C MANE Select	ENSP00000257430.4:p.Asn1798His
ENST00000257430.8:c.5392A>C	ENSP00000257430.4:p.Asn1798His
ENST00000508376.6:c.5392A>C	ENSP00000427089.2:p.Asn1798His
ENST00000508624.5:c.*4714A>C	ENSP00000424265.1:n.*4714A>C
ENST00000520401.1:c.230+12014A>C
NM_000038.5:c.5392A>C	NP_000029.2:p.Asn1798His
NM_001127510.2:c.5392A>C	NP_001120982.1:p.Asn1798His
NM_001127511.2:c.5338A>C	NP_001120983.2:p.Asn1780His
NM_001354895.1:c.5392A>C	NP_001341824.1:p.Asn1798His
NM_001354896.1:c.5446A>C	NP_001341825.1:p.Asn1816His
NM_001354897.1:c.5422A>C	NP_001341826.1:p.Asn1808His
NM_001354898.1:c.5317A>C	NP_001341827.1:p.Asn1773His
NM_001354899.1:c.5308A>C	NP_001341828.1:p.Asn1770His
NM_001354900.1:c.5269A>C	NP_001341829.1:p.Asn1757His
NM_001354901.1:c.5215A>C	NP_001341830.1:p.Asn1739His
NM_001354902.1:c.5119A>C	NP_001341831.1:p.Asn1707His
NM_001354903.1:c.5089A>C	NP_001341832.1:p.Asn1697His
NM_001354904.1:c.5014A>C	NP_001341833.1:p.Asn1672His
NM_001354905.1:c.4912A>C	NP_001341834.1:p.Asn1638His
NM_001354906.1:c.4543A>C	NP_001341835.1:p.Asn1515His
NM_000038.6:c.5392A>C MANE Select	NP_000029.2:p.Asn1798His
NM_001127510.3:c.5392A>C	NP_001120982.1:p.Asn1798His
NM_001127511.3:c.5338A>C	NP_001120983.2:p.Asn1780His
NM_001354895.2:c.5392A>C	NP_001341824.1:p.Asn1798His
NM_001354896.2:c.5446A>C	NP_001341825.1:p.Asn1816His
NM_001354897.2:c.5422A>C	NP_001341826.1:p.Asn1808His
NM_001354898.2:c.5317A>C	NP_001341827.1:p.Asn1773His
NM_001354899.2:c.5308A>C	NP_001341828.1:p.Asn1770His
NM_001354900.2:c.5269A>C	NP_001341829.1:p.Asn1757His
NM_001354901.2:c.5215A>C	NP_001341830.1:p.Asn1739His
NM_001354902.2:c.5119A>C	NP_001341831.1:p.Asn1707His
NM_001354903.2:c.5089A>C	NP_001341832.1:p.Asn1697His
NM_001354904.2:c.5014A>C	NP_001341833.1:p.Asn1672His
NM_001354905.2:c.4912A>C	NP_001341834.1:p.Asn1638His
NM_001354906.2:c.4543A>C	NP_001341835.1:p.Asn1515His