Canonical Allele Identifier: CA2573138791

Gene: APC

Linked Data

• ClinVar Variation Id: 1486022
• ClinVar RCV Id: RCV002579664
• dbSNP Id: rs2149630082
• gnomAD v4: 5-112707660-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707660T>C , CM000667.2:g.112707660T>C	GRCh38
NC_000005.9:g.112043357T>C , CM000667.1:g.112043357T>C	GRCh37
NC_000005.8:g.112071256T>C	NCBI36
NG_008481.4:g.20140T>C , LRG_130:g.20140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-58T>C	ENSP00000481752.1:n.-58T>C
ENST00000507379.6:c.-58T>C	ENSP00000423224.2:n.-58T>C
ENST00000509732.6:c.-19+11T>C	ENSP00000426541.2:n.-19+11T>C
ENST00000505350.1:c.-58T>C	ENSP00000481752.1:n.-58T>C
ENST00000507379.5:c.-58T>C	ENSP00000423224.1:n.-58T>C
ENST00000509732.5:c.-19+11T>C	ENSP00000426541.1:n.-19+11T>C
NM_001127511.2:c.-58T>C	NP_001120983.2:n.-58T>C
NM_001354895.1:c.-241T>C	NP_001341824.1:n.-241T>C
NM_001354897.1:c.-58T>C	NP_001341826.1:n.-58T>C
NM_001354902.1:c.-58T>C	NP_001341831.1:n.-58T>C
NM_001127511.3:c.-58T>C	NP_001120983.2:n.-58T>C
NM_001354895.2:c.-241T>C	NP_001341824.1:n.-241T>C
NM_001354897.2:c.-58T>C	NP_001341826.1:n.-58T>C
NM_001354902.2:c.-58T>C	NP_001341831.1:n.-58T>C