Canonical Allele Identifier: CA16038130

Gene: APC

Linked Data

• ClinVar Variation Id: 1062362
• ClinVar RCV Id: RCV003771188
• dbSNP Id: rs2149992913
• MyVariant Identifiers: chr5:g.112179027A>G (hg19) ; chr5:g.112843330A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843330A>G , CM000667.2:g.112843330A>G	GRCh38
NC_000005.9:g.112179027A>G , CM000667.1:g.112179027A>G	GRCh37
NC_000005.8:g.112206926A>G	NCBI36
NG_008481.4:g.155810A>G , LRG_130:g.155810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7790A>G	ENSP00000473355.2:p.Glu2597Gly
ENST00000505350.2:c.*7742A>G	ENSP00000481752.1:n.*7742A>G
ENST00000507379.6:c.7682A>G	ENSP00000423224.2:p.Glu2561Gly
ENST00000509732.6:c.7736A>G	ENSP00000426541.2:p.Glu2579Gly
ENST00000512211.7:c.7736A>G	ENSP00000423828.3:p.Glu2579Gly
ENST00000257430.9:c.7736A>G MANE Select	ENSP00000257430.4:p.Glu2579Gly
ENST00000257430.8:c.7736A>G	ENSP00000257430.4:p.Glu2579Gly
ENST00000508376.6:c.7736A>G	ENSP00000427089.2:p.Glu2579Gly
ENST00000520401.1:c.231-13319A>G
NM_000038.5:c.7736A>G	NP_000029.2:p.Glu2579Gly
NM_001127510.2:c.7736A>G	NP_001120982.1:p.Glu2579Gly
NM_001127511.2:c.7682A>G	NP_001120983.2:p.Glu2561Gly
NM_001354895.1:c.7736A>G	NP_001341824.1:p.Glu2579Gly
NM_001354896.1:c.7790A>G	NP_001341825.1:p.Glu2597Gly
NM_001354897.1:c.7766A>G	NP_001341826.1:p.Glu2589Gly
NM_001354898.1:c.7661A>G	NP_001341827.1:p.Glu2554Gly
NM_001354899.1:c.7652A>G	NP_001341828.1:p.Glu2551Gly
NM_001354900.1:c.7613A>G	NP_001341829.1:p.Glu2538Gly
NM_001354901.1:c.7559A>G	NP_001341830.1:p.Glu2520Gly
NM_001354902.1:c.7463A>G	NP_001341831.1:p.Glu2488Gly
NM_001354903.1:c.7433A>G	NP_001341832.1:p.Glu2478Gly
NM_001354904.1:c.7358A>G	NP_001341833.1:p.Glu2453Gly
NM_001354905.1:c.7256A>G	NP_001341834.1:p.Glu2419Gly
NM_001354906.1:c.6887A>G	NP_001341835.1:p.Glu2296Gly
NM_000038.6:c.7736A>G MANE Select	NP_000029.2:p.Glu2579Gly
NM_001127510.3:c.7736A>G	NP_001120982.1:p.Glu2579Gly
NM_001127511.3:c.7682A>G	NP_001120983.2:p.Glu2561Gly
NM_001354895.2:c.7736A>G	NP_001341824.1:p.Glu2579Gly
NM_001354896.2:c.7790A>G	NP_001341825.1:p.Glu2597Gly
NM_001354897.2:c.7766A>G	NP_001341826.1:p.Glu2589Gly
NM_001354898.2:c.7661A>G	NP_001341827.1:p.Glu2554Gly
NM_001354899.2:c.7652A>G	NP_001341828.1:p.Glu2551Gly
NM_001354900.2:c.7613A>G	NP_001341829.1:p.Glu2538Gly
NM_001354901.2:c.7559A>G	NP_001341830.1:p.Glu2520Gly
NM_001354902.2:c.7463A>G	NP_001341831.1:p.Glu2488Gly
NM_001354903.2:c.7433A>G	NP_001341832.1:p.Glu2478Gly
NM_001354904.2:c.7358A>G	NP_001341833.1:p.Glu2453Gly
NM_001354905.2:c.7256A>G	NP_001341834.1:p.Glu2419Gly
NM_001354906.2:c.6887A>G	NP_001341835.1:p.Glu2296Gly