Canonical Allele Identifier: CA16031420

Gene: APC

Linked Data

• ClinVar Variation Id: 489454
• ClinVar RCV Id: RCV000580339 ; RCV003744583
• dbSNP Id: rs1554086001
• gnomAD v4: 5-112840200-G-A
• MyVariant Identifiers: chr5:g.112175897G>A (hg19) ; chr5:g.112840200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840200G>A , CM000667.2:g.112840200G>A	GRCh38
NC_000005.9:g.112175897G>A , CM000667.1:g.112175897G>A	GRCh37
NC_000005.8:g.112203796G>A	NCBI36
NG_008481.4:g.152680G>A , LRG_130:g.152680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4660G>A	ENSP00000473355.2:p.Glu1554Lys
ENST00000505350.2:c.*4612G>A	ENSP00000481752.1:n.*4612G>A
ENST00000507379.6:c.4552G>A	ENSP00000423224.2:p.Glu1518Lys
ENST00000509732.6:c.4606G>A	ENSP00000426541.2:p.Glu1536Lys
ENST00000512211.7:c.4606G>A	ENSP00000423828.3:p.Glu1536Lys
ENST00000257430.9:c.4606G>A MANE Select	ENSP00000257430.4:p.Glu1536Lys
ENST00000257430.8:c.4606G>A	ENSP00000257430.4:p.Glu1536Lys
ENST00000508376.6:c.4606G>A	ENSP00000427089.2:p.Glu1536Lys
ENST00000508624.5:c.*3928G>A	ENSP00000424265.1:n.*3928G>A
ENST00000520401.1:c.230+11228G>A
NM_000038.5:c.4606G>A	NP_000029.2:p.Glu1536Lys
NM_001127510.2:c.4606G>A	NP_001120982.1:p.Glu1536Lys
NM_001127511.2:c.4552G>A	NP_001120983.2:p.Glu1518Lys
NM_001354895.1:c.4606G>A	NP_001341824.1:p.Glu1536Lys
NM_001354896.1:c.4660G>A	NP_001341825.1:p.Glu1554Lys
NM_001354897.1:c.4636G>A	NP_001341826.1:p.Glu1546Lys
NM_001354898.1:c.4531G>A	NP_001341827.1:p.Glu1511Lys
NM_001354899.1:c.4522G>A	NP_001341828.1:p.Glu1508Lys
NM_001354900.1:c.4483G>A	NP_001341829.1:p.Glu1495Lys
NM_001354901.1:c.4429G>A	NP_001341830.1:p.Glu1477Lys
NM_001354902.1:c.4333G>A	NP_001341831.1:p.Glu1445Lys
NM_001354903.1:c.4303G>A	NP_001341832.1:p.Glu1435Lys
NM_001354904.1:c.4228G>A	NP_001341833.1:p.Glu1410Lys
NM_001354905.1:c.4126G>A	NP_001341834.1:p.Glu1376Lys
NM_001354906.1:c.3757G>A	NP_001341835.1:p.Glu1253Lys
NM_000038.6:c.4606G>A MANE Select	NP_000029.2:p.Glu1536Lys
NM_001127510.3:c.4606G>A	NP_001120982.1:p.Glu1536Lys
NM_001127511.3:c.4552G>A	NP_001120983.2:p.Glu1518Lys
NM_001354895.2:c.4606G>A	NP_001341824.1:p.Glu1536Lys
NM_001354896.2:c.4660G>A	NP_001341825.1:p.Glu1554Lys
NM_001354897.2:c.4636G>A	NP_001341826.1:p.Glu1546Lys
NM_001354898.2:c.4531G>A	NP_001341827.1:p.Glu1511Lys
NM_001354899.2:c.4522G>A	NP_001341828.1:p.Glu1508Lys
NM_001354900.2:c.4483G>A	NP_001341829.1:p.Glu1495Lys
NM_001354901.2:c.4429G>A	NP_001341830.1:p.Glu1477Lys
NM_001354902.2:c.4333G>A	NP_001341831.1:p.Glu1445Lys
NM_001354903.2:c.4303G>A	NP_001341832.1:p.Glu1435Lys
NM_001354904.2:c.4228G>A	NP_001341833.1:p.Glu1410Lys
NM_001354905.2:c.4126G>A	NP_001341834.1:p.Glu1376Lys
NM_001354906.2:c.3757G>A	NP_001341835.1:p.Glu1253Lys