Canonical Allele Identifier: CA16037310

Gene: APC

Linked Data

• ClinVar Variation Id: 565707
• ClinVar RCV Id: RCV002531436
• dbSNP Id: rs1208660533
• gnomAD v2: 5-112178628-A-C
• gnomAD v4: 5-112842931-A-C
• MyVariant Identifiers: chr5:g.112178628A>C (hg19) ; chr5:g.112842931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842931A>C , CM000667.2:g.112842931A>C	GRCh38
NC_000005.9:g.112178628A>C , CM000667.1:g.112178628A>C	GRCh37
NC_000005.8:g.112206527A>C	NCBI36
NG_008481.4:g.155411A>C , LRG_130:g.155411A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7391A>C	ENSP00000473355.2:p.Glu2464Ala
ENST00000505350.2:c.*7343A>C	ENSP00000481752.1:n.*7343A>C
ENST00000507379.6:c.7283A>C	ENSP00000423224.2:p.Glu2428Ala
ENST00000509732.6:c.7337A>C	ENSP00000426541.2:p.Glu2446Ala
ENST00000512211.7:c.7337A>C	ENSP00000423828.3:p.Glu2446Ala
ENST00000257430.9:c.7337A>C MANE Select	ENSP00000257430.4:p.Glu2446Ala
ENST00000257430.8:c.7337A>C	ENSP00000257430.4:p.Glu2446Ala
ENST00000508376.6:c.7337A>C	ENSP00000427089.2:p.Glu2446Ala
ENST00000520401.1:c.231-13718A>C
NM_000038.5:c.7337A>C	NP_000029.2:p.Glu2446Ala
NM_001127510.2:c.7337A>C	NP_001120982.1:p.Glu2446Ala
NM_001127511.2:c.7283A>C	NP_001120983.2:p.Glu2428Ala
NM_001354895.1:c.7337A>C	NP_001341824.1:p.Glu2446Ala
NM_001354896.1:c.7391A>C	NP_001341825.1:p.Glu2464Ala
NM_001354897.1:c.7367A>C	NP_001341826.1:p.Glu2456Ala
NM_001354898.1:c.7262A>C	NP_001341827.1:p.Glu2421Ala
NM_001354899.1:c.7253A>C	NP_001341828.1:p.Glu2418Ala
NM_001354900.1:c.7214A>C	NP_001341829.1:p.Glu2405Ala
NM_001354901.1:c.7160A>C	NP_001341830.1:p.Glu2387Ala
NM_001354902.1:c.7064A>C	NP_001341831.1:p.Glu2355Ala
NM_001354903.1:c.7034A>C	NP_001341832.1:p.Glu2345Ala
NM_001354904.1:c.6959A>C	NP_001341833.1:p.Glu2320Ala
NM_001354905.1:c.6857A>C	NP_001341834.1:p.Glu2286Ala
NM_001354906.1:c.6488A>C	NP_001341835.1:p.Glu2163Ala
NM_000038.6:c.7337A>C MANE Select	NP_000029.2:p.Glu2446Ala
NM_001127510.3:c.7337A>C	NP_001120982.1:p.Glu2446Ala
NM_001127511.3:c.7283A>C	NP_001120983.2:p.Glu2428Ala
NM_001354895.2:c.7337A>C	NP_001341824.1:p.Glu2446Ala
NM_001354896.2:c.7391A>C	NP_001341825.1:p.Glu2464Ala
NM_001354897.2:c.7367A>C	NP_001341826.1:p.Glu2456Ala
NM_001354898.2:c.7262A>C	NP_001341827.1:p.Glu2421Ala
NM_001354899.2:c.7253A>C	NP_001341828.1:p.Glu2418Ala
NM_001354900.2:c.7214A>C	NP_001341829.1:p.Glu2405Ala
NM_001354901.2:c.7160A>C	NP_001341830.1:p.Glu2387Ala
NM_001354902.2:c.7064A>C	NP_001341831.1:p.Glu2355Ala
NM_001354903.2:c.7034A>C	NP_001341832.1:p.Glu2345Ala
NM_001354904.2:c.6959A>C	NP_001341833.1:p.Glu2320Ala
NM_001354905.2:c.6857A>C	NP_001341834.1:p.Glu2286Ala
NM_001354906.2:c.6488A>C	NP_001341835.1:p.Glu2163Ala