Canonical Allele Identifier: CA360612107

Gene: APC

Linked Data

• ClinVar Variation Id: 1483673
• ClinVar RCV Id: RCV002025495
• dbSNP Id: rs766151900
• MyVariant Identifiers: chr5:g.112043550A>G (hg19) ; chr5:g.112707853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707853A>G , CM000667.2:g.112707853A>G	GRCh38
NC_000005.9:g.112043550A>G , CM000667.1:g.112043550A>G	GRCh37
NC_000005.8:g.112071449A>G	NCBI36
NG_008481.4:g.20333A>G , LRG_130:g.20333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.136A>G	ENSP00000481752.1:p.Thr46Ala
ENST00000507379.6:c.136A>G	ENSP00000423224.2:p.Thr46Ala
ENST00000509732.6:c.-19+204A>G	ENSP00000426541.2:n.-19+204A>G
ENST00000505350.1:c.136A>G	ENSP00000481752.1:p.Thr46Ala
ENST00000507379.5:c.136A>G	ENSP00000423224.1:p.Thr46Ala
ENST00000509732.5:c.-19+204A>G	ENSP00000426541.1:n.-19+204A>G
NM_001127511.2:c.136A>G	NP_001120983.2:p.Thr46Ala
NM_001354895.1:c.-48A>G	NP_001341824.1:n.-48A>G
NM_001354897.1:c.136A>G	NP_001341826.1:p.Thr46Ala
NM_001354902.1:c.136A>G	NP_001341831.1:p.Thr46Ala
NM_001127511.3:c.136A>G	NP_001120983.2:p.Thr46Ala
NM_001354895.2:c.-48A>G	NP_001341824.1:n.-48A>G
NM_001354897.2:c.136A>G	NP_001341826.1:p.Thr46Ala
NM_001354902.2:c.136A>G	NP_001341831.1:p.Thr46Ala