Canonical Allele Identifier: CA16034338

Gene: APC

Linked Data

• ClinVar Variation Id: 1018219
• ClinVar RCV Id: RCV002543727
• dbSNP Id: rs1766095261
• MyVariant Identifiers: chr5:g.112177234T>A (hg19) ; chr5:g.112841537T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841537T>A , CM000667.2:g.112841537T>A	GRCh38
NC_000005.9:g.112177234T>A , CM000667.1:g.112177234T>A	GRCh37
NC_000005.8:g.112205133T>A	NCBI36
NG_008481.4:g.154017T>A , LRG_130:g.154017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5997T>A	ENSP00000473355.2:p.Asn1999Lys
ENST00000505350.2:c.*5949T>A	ENSP00000481752.1:n.*5949T>A
ENST00000507379.6:c.5889T>A	ENSP00000423224.2:p.Asn1963Lys
ENST00000509732.6:c.5943T>A	ENSP00000426541.2:p.Asn1981Lys
ENST00000512211.7:c.5943T>A	ENSP00000423828.3:p.Asn1981Lys
ENST00000257430.9:c.5943T>A MANE Select	ENSP00000257430.4:p.Asn1981Lys
ENST00000257430.8:c.5943T>A	ENSP00000257430.4:p.Asn1981Lys
ENST00000508376.6:c.5943T>A	ENSP00000427089.2:p.Asn1981Lys
ENST00000508624.5:c.*5265T>A	ENSP00000424265.1:n.*5265T>A
ENST00000520401.1:c.230+12565T>A
NM_000038.5:c.5943T>A	NP_000029.2:p.Asn1981Lys
NM_001127510.2:c.5943T>A	NP_001120982.1:p.Asn1981Lys
NM_001127511.2:c.5889T>A	NP_001120983.2:p.Asn1963Lys
NM_001354895.1:c.5943T>A	NP_001341824.1:p.Asn1981Lys
NM_001354896.1:c.5997T>A	NP_001341825.1:p.Asn1999Lys
NM_001354897.1:c.5973T>A	NP_001341826.1:p.Asn1991Lys
NM_001354898.1:c.5868T>A	NP_001341827.1:p.Asn1956Lys
NM_001354899.1:c.5859T>A	NP_001341828.1:p.Asn1953Lys
NM_001354900.1:c.5820T>A	NP_001341829.1:p.Asn1940Lys
NM_001354901.1:c.5766T>A	NP_001341830.1:p.Asn1922Lys
NM_001354902.1:c.5670T>A	NP_001341831.1:p.Asn1890Lys
NM_001354903.1:c.5640T>A	NP_001341832.1:p.Asn1880Lys
NM_001354904.1:c.5565T>A	NP_001341833.1:p.Asn1855Lys
NM_001354905.1:c.5463T>A	NP_001341834.1:p.Asn1821Lys
NM_001354906.1:c.5094T>A	NP_001341835.1:p.Asn1698Lys
NM_000038.6:c.5943T>A MANE Select	NP_000029.2:p.Asn1981Lys
NM_001127510.3:c.5943T>A	NP_001120982.1:p.Asn1981Lys
NM_001127511.3:c.5889T>A	NP_001120983.2:p.Asn1963Lys
NM_001354895.2:c.5943T>A	NP_001341824.1:p.Asn1981Lys
NM_001354896.2:c.5997T>A	NP_001341825.1:p.Asn1999Lys
NM_001354897.2:c.5973T>A	NP_001341826.1:p.Asn1991Lys
NM_001354898.2:c.5868T>A	NP_001341827.1:p.Asn1956Lys
NM_001354899.2:c.5859T>A	NP_001341828.1:p.Asn1953Lys
NM_001354900.2:c.5820T>A	NP_001341829.1:p.Asn1940Lys
NM_001354901.2:c.5766T>A	NP_001341830.1:p.Asn1922Lys
NM_001354902.2:c.5670T>A	NP_001341831.1:p.Asn1890Lys
NM_001354903.2:c.5640T>A	NP_001341832.1:p.Asn1880Lys
NM_001354904.2:c.5565T>A	NP_001341833.1:p.Asn1855Lys
NM_001354905.2:c.5463T>A	NP_001341834.1:p.Asn1821Lys
NM_001354906.2:c.5094T>A	NP_001341835.1:p.Asn1698Lys