Canonical Allele Identifier: CA009806

Gene: APC

Linked Data

• ClinVar Variation Id: 142246
• ClinVar RCV Id: RCV000131255 ; RCV000148368 ; RCV000587871 ; RCV001175337 ; RCV003534386 ; RCV003998094
• dbSNP Id: rs373440614
• ExAC: 5:112176209 C / T
• gnomAD v2: 5-112176209-C-T
• gnomAD v3: 5-112840512-C-T
• gnomAD v4: 5-112840512-C-T
• COSMIC: COSM4127116
• MyVariant Identifiers: chr5:g.112176209C>T (hg19) ; chr5:g.112840512C>T (hg38)
• PubMed: PMID:7833931 ; PMID:8888441 ; PMID:11317365 ; PMID:20233475 ; PMID:21859464 ; PMID:24055113 ; PMID:25637381 ; PMID:27150160

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840512C>T , CM000667.2:g.112840512C>T	GRCh38
NC_000005.9:g.112176209C>T , CM000667.1:g.112176209C>T	GRCh37
NC_000005.8:g.112204108C>T	NCBI36
NG_008481.4:g.152992C>T , LRG_130:g.152992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4972C>T	ENSP00000473355.2:p.Arg1658Trp
ENST00000505350.2:c.*4924C>T	ENSP00000481752.1:n.*4924C>T
ENST00000507379.6:c.4864C>T	ENSP00000423224.2:p.Arg1622Trp
ENST00000509732.6:c.4918C>T	ENSP00000426541.2:p.Arg1640Trp
ENST00000512211.7:c.4918C>T	ENSP00000423828.3:p.Arg1640Trp
ENST00000257430.9:c.4918C>T MANE Select	ENSP00000257430.4:p.Arg1640Trp
ENST00000257430.8:c.4918C>T	ENSP00000257430.4:p.Arg1640Trp
ENST00000508376.6:c.4918C>T	ENSP00000427089.2:p.Arg1640Trp
ENST00000508624.5:c.*4240C>T	ENSP00000424265.1:n.*4240C>T
ENST00000520401.1:c.230+11540C>T
NM_000038.5:c.4918C>T	NP_000029.2:p.Arg1640Trp
NM_001127510.2:c.4918C>T	NP_001120982.1:p.Arg1640Trp
NM_001127511.2:c.4864C>T	NP_001120983.2:p.Arg1622Trp
NM_001354895.1:c.4918C>T	NP_001341824.1:p.Arg1640Trp
NM_001354896.1:c.4972C>T	NP_001341825.1:p.Arg1658Trp
NM_001354897.1:c.4948C>T	NP_001341826.1:p.Arg1650Trp
NM_001354898.1:c.4843C>T	NP_001341827.1:p.Arg1615Trp
NM_001354899.1:c.4834C>T	NP_001341828.1:p.Arg1612Trp
NM_001354900.1:c.4795C>T	NP_001341829.1:p.Arg1599Trp
NM_001354901.1:c.4741C>T	NP_001341830.1:p.Arg1581Trp
NM_001354902.1:c.4645C>T	NP_001341831.1:p.Arg1549Trp
NM_001354903.1:c.4615C>T	NP_001341832.1:p.Arg1539Trp
NM_001354904.1:c.4540C>T	NP_001341833.1:p.Arg1514Trp
NM_001354905.1:c.4438C>T	NP_001341834.1:p.Arg1480Trp
NM_001354906.1:c.4069C>T	NP_001341835.1:p.Arg1357Trp
NM_000038.6:c.4918C>T MANE Select	NP_000029.2:p.Arg1640Trp
NM_001127510.3:c.4918C>T	NP_001120982.1:p.Arg1640Trp
NM_001127511.3:c.4864C>T	NP_001120983.2:p.Arg1622Trp
NM_001354895.2:c.4918C>T	NP_001341824.1:p.Arg1640Trp
NM_001354896.2:c.4972C>T	NP_001341825.1:p.Arg1658Trp
NM_001354897.2:c.4948C>T	NP_001341826.1:p.Arg1650Trp
NM_001354898.2:c.4843C>T	NP_001341827.1:p.Arg1615Trp
NM_001354899.2:c.4834C>T	NP_001341828.1:p.Arg1612Trp
NM_001354900.2:c.4795C>T	NP_001341829.1:p.Arg1599Trp
NM_001354901.2:c.4741C>T	NP_001341830.1:p.Arg1581Trp
NM_001354902.2:c.4645C>T	NP_001341831.1:p.Arg1549Trp
NM_001354903.2:c.4615C>T	NP_001341832.1:p.Arg1539Trp
NM_001354904.2:c.4540C>T	NP_001341833.1:p.Arg1514Trp
NM_001354905.2:c.4438C>T	NP_001341834.1:p.Arg1480Trp
NM_001354906.2:c.4069C>T	NP_001341835.1:p.Arg1357Trp