Canonical Allele Identifier: CA16037014

Gene: APC

Linked Data

• ClinVar Variation Id: 411542
• ClinVar RCV Id: RCV003651892
• dbSNP Id: rs2229994
• MyVariant Identifiers: chr5:g.112178492C>G (hg19) ; chr5:g.112842795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842795C>G , CM000667.2:g.112842795C>G	GRCh38
NC_000005.9:g.112178492C>G , CM000667.1:g.112178492C>G	GRCh37
NC_000005.8:g.112206391C>G	NCBI36
NG_008481.4:g.155275C>G , LRG_130:g.155275C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7255C>G	ENSP00000473355.2:p.Leu2419Val
ENST00000505350.2:c.*7207C>G	ENSP00000481752.1:n.*7207C>G
ENST00000507379.6:c.7147C>G	ENSP00000423224.2:p.Leu2383Val
ENST00000509732.6:c.7201C>G	ENSP00000426541.2:p.Leu2401Val
ENST00000512211.7:c.7201C>G	ENSP00000423828.3:p.Leu2401Val
ENST00000257430.9:c.7201C>G MANE Select	ENSP00000257430.4:p.Leu2401Val
ENST00000257430.8:c.7201C>G	ENSP00000257430.4:p.Leu2401Val
ENST00000508376.6:c.7201C>G	ENSP00000427089.2:p.Leu2401Val
ENST00000520401.1:c.230+13823C>G
NM_000038.5:c.7201C>G	NP_000029.2:p.Leu2401Val
NM_001127510.2:c.7201C>G	NP_001120982.1:p.Leu2401Val
NM_001127511.2:c.7147C>G	NP_001120983.2:p.Leu2383Val
NM_001354895.1:c.7201C>G	NP_001341824.1:p.Leu2401Val
NM_001354896.1:c.7255C>G	NP_001341825.1:p.Leu2419Val
NM_001354897.1:c.7231C>G	NP_001341826.1:p.Leu2411Val
NM_001354898.1:c.7126C>G	NP_001341827.1:p.Leu2376Val
NM_001354899.1:c.7117C>G	NP_001341828.1:p.Leu2373Val
NM_001354900.1:c.7078C>G	NP_001341829.1:p.Leu2360Val
NM_001354901.1:c.7024C>G	NP_001341830.1:p.Leu2342Val
NM_001354902.1:c.6928C>G	NP_001341831.1:p.Leu2310Val
NM_001354903.1:c.6898C>G	NP_001341832.1:p.Leu2300Val
NM_001354904.1:c.6823C>G	NP_001341833.1:p.Leu2275Val
NM_001354905.1:c.6721C>G	NP_001341834.1:p.Leu2241Val
NM_001354906.1:c.6352C>G	NP_001341835.1:p.Leu2118Val
NM_000038.6:c.7201C>G MANE Select	NP_000029.2:p.Leu2401Val
NM_001127510.3:c.7201C>G	NP_001120982.1:p.Leu2401Val
NM_001127511.3:c.7147C>G	NP_001120983.2:p.Leu2383Val
NM_001354895.2:c.7201C>G	NP_001341824.1:p.Leu2401Val
NM_001354896.2:c.7255C>G	NP_001341825.1:p.Leu2419Val
NM_001354897.2:c.7231C>G	NP_001341826.1:p.Leu2411Val
NM_001354898.2:c.7126C>G	NP_001341827.1:p.Leu2376Val
NM_001354899.2:c.7117C>G	NP_001341828.1:p.Leu2373Val
NM_001354900.2:c.7078C>G	NP_001341829.1:p.Leu2360Val
NM_001354901.2:c.7024C>G	NP_001341830.1:p.Leu2342Val
NM_001354902.2:c.6928C>G	NP_001341831.1:p.Leu2310Val
NM_001354903.2:c.6898C>G	NP_001341832.1:p.Leu2300Val
NM_001354904.2:c.6823C>G	NP_001341833.1:p.Leu2275Val
NM_001354905.2:c.6721C>G	NP_001341834.1:p.Leu2241Val
NM_001354906.2:c.6352C>G	NP_001341835.1:p.Leu2118Val