Canonical Allele Identifier: CA1573442512

Gene: APC

Linked Data

• ClinVar Variation Id: 1390962
• ClinVar RCV Id: RCV003534772
• dbSNP Id: rs1750585734

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707596T>G , CM000667.2:g.112707596T>G	GRCh38
NC_000005.9:g.112043293T>G , CM000667.1:g.112043293T>G	GRCh37
NC_000005.8:g.112071192T>G	NCBI36
NG_008481.4:g.20076T>G , LRG_130:g.20076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-122T>G	ENSP00000481752.1:n.-122T>G
ENST00000507379.6:c.-122T>G	ENSP00000423224.2:n.-122T>G
ENST00000509732.6:c.-72T>G	ENSP00000426541.2:n.-72T>G
ENST00000505350.1:c.-122T>G	ENSP00000481752.1:n.-122T>G
ENST00000507379.5:c.-122T>G	ENSP00000423224.1:n.-122T>G
ENST00000509732.5:c.-72T>G	ENSP00000426541.1:n.-72T>G
NM_001127511.2:c.-122T>G	NP_001120983.2:n.-122T>G
NM_001354895.1:c.-305T>G	NP_001341824.1:n.-305T>G
NM_001354897.1:c.-122T>G	NP_001341826.1:n.-122T>G
NM_001354902.1:c.-122T>G	NP_001341831.1:n.-122T>G
NM_001127511.3:c.-122T>G	NP_001120983.2:n.-122T>G
NM_001354895.2:c.-305T>G	NP_001341824.1:n.-305T>G
NM_001354897.2:c.-122T>G	NP_001341826.1:n.-122T>G
NM_001354902.2:c.-122T>G	NP_001341831.1:n.-122T>G