Canonical Allele Identifier: CA16030141

Gene: APC

Linked Data

• ClinVar Variation Id: 537457
• ClinVar RCV Id: RCV002358845 ; RCV002530036
• dbSNP Id: rs1280622194
• gnomAD v2: 5-112175310-C-G
• gnomAD v4: 5-112839613-C-G
• MyVariant Identifiers: chr5:g.112175310C>G (hg19) ; chr5:g.112839613C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839613C>G , CM000667.2:g.112839613C>G	GRCh38
NC_000005.9:g.112175310C>G , CM000667.1:g.112175310C>G	GRCh37
NC_000005.8:g.112203209C>G	NCBI36
NG_008481.4:g.152093C>G , LRG_130:g.152093C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3684C>G	ENSP00000484935.2:n.3684C>G
ENST00000504915.3:c.4073C>G	ENSP00000473355.2:p.Ser1358Cys
ENST00000505350.2:c.*4025C>G	ENSP00000481752.1:n.*4025C>G
ENST00000507379.6:c.3965C>G	ENSP00000423224.2:p.Ser1322Cys
ENST00000509732.6:c.4019C>G	ENSP00000426541.2:p.Ser1340Cys
ENST00000512211.7:c.4019C>G	ENSP00000423828.3:p.Ser1340Cys
ENST00000257430.9:c.4019C>G MANE Select	ENSP00000257430.4:p.Ser1340Cys
ENST00000257430.8:c.4019C>G	ENSP00000257430.4:p.Ser1340Cys
ENST00000502371.2:c.2372C>G
ENST00000508376.6:c.4019C>G	ENSP00000427089.2:p.Ser1340Cys
ENST00000508624.5:c.*3341C>G	ENSP00000424265.1:n.*3341C>G
ENST00000520401.1:c.230+10641C>G
NM_000038.5:c.4019C>G	NP_000029.2:p.Ser1340Cys
NM_001127510.2:c.4019C>G	NP_001120982.1:p.Ser1340Cys
NM_001127511.2:c.3965C>G	NP_001120983.2:p.Ser1322Cys
NM_001354895.1:c.4019C>G	NP_001341824.1:p.Ser1340Cys
NM_001354896.1:c.4073C>G	NP_001341825.1:p.Ser1358Cys
NM_001354897.1:c.4049C>G	NP_001341826.1:p.Ser1350Cys
NM_001354898.1:c.3944C>G	NP_001341827.1:p.Ser1315Cys
NM_001354899.1:c.3935C>G	NP_001341828.1:p.Ser1312Cys
NM_001354900.1:c.3896C>G	NP_001341829.1:p.Ser1299Cys
NM_001354901.1:c.3842C>G	NP_001341830.1:p.Ser1281Cys
NM_001354902.1:c.3746C>G	NP_001341831.1:p.Ser1249Cys
NM_001354903.1:c.3716C>G	NP_001341832.1:p.Ser1239Cys
NM_001354904.1:c.3641C>G	NP_001341833.1:p.Ser1214Cys
NM_001354905.1:c.3539C>G	NP_001341834.1:p.Ser1180Cys
NM_001354906.1:c.3170C>G	NP_001341835.1:p.Ser1057Cys
NM_000038.6:c.4019C>G MANE Select	NP_000029.2:p.Ser1340Cys
NM_001127510.3:c.4019C>G	NP_001120982.1:p.Ser1340Cys
NM_001127511.3:c.3965C>G	NP_001120983.2:p.Ser1322Cys
NM_001354895.2:c.4019C>G	NP_001341824.1:p.Ser1340Cys
NM_001354896.2:c.4073C>G	NP_001341825.1:p.Ser1358Cys
NM_001354897.2:c.4049C>G	NP_001341826.1:p.Ser1350Cys
NM_001354898.2:c.3944C>G	NP_001341827.1:p.Ser1315Cys
NM_001354899.2:c.3935C>G	NP_001341828.1:p.Ser1312Cys
NM_001354900.2:c.3896C>G	NP_001341829.1:p.Ser1299Cys
NM_001354901.2:c.3842C>G	NP_001341830.1:p.Ser1281Cys
NM_001354902.2:c.3746C>G	NP_001341831.1:p.Ser1249Cys
NM_001354903.2:c.3716C>G	NP_001341832.1:p.Ser1239Cys
NM_001354904.2:c.3641C>G	NP_001341833.1:p.Ser1214Cys
NM_001354905.2:c.3539C>G	NP_001341834.1:p.Ser1180Cys
NM_001354906.2:c.3170C>G	NP_001341835.1:p.Ser1057Cys