Canonical Allele Identifier: CA360611722

Gene: APC

Linked Data

• ClinVar Variation Id: 2124474
• ClinVar RCV Id: RCV003744993
• dbSNP Id: rs1750605530
• MyVariant Identifiers: chr5:g.112043454C>G (hg19) ; chr5:g.112707757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707757C>G , CM000667.2:g.112707757C>G	GRCh38
NC_000005.9:g.112043454C>G , CM000667.1:g.112043454C>G	GRCh37
NC_000005.8:g.112071353C>G	NCBI36
NG_008481.4:g.20237C>G , LRG_130:g.20237C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.40C>G	ENSP00000481752.1:p.Pro14Ala
ENST00000507379.6:c.40C>G	ENSP00000423224.2:p.Pro14Ala
ENST00000509732.6:c.-19+108C>G	ENSP00000426541.2:n.-19+108C>G
ENST00000505350.1:c.40C>G	ENSP00000481752.1:p.Pro14Ala
ENST00000507379.5:c.40C>G	ENSP00000423224.1:p.Pro14Ala
ENST00000509732.5:c.-19+108C>G	ENSP00000426541.1:n.-19+108C>G
NM_001127511.2:c.40C>G	NP_001120983.2:p.Pro14Ala
NM_001354895.1:c.-144C>G	NP_001341824.1:n.-144C>G
NM_001354897.1:c.40C>G	NP_001341826.1:p.Pro14Ala
NM_001354902.1:c.40C>G	NP_001341831.1:p.Pro14Ala
NM_001127511.3:c.40C>G	NP_001120983.2:p.Pro14Ala
NM_001354895.2:c.-144C>G	NP_001341824.1:n.-144C>G
NM_001354897.2:c.40C>G	NP_001341826.1:p.Pro14Ala
NM_001354902.2:c.40C>G	NP_001341831.1:p.Pro14Ala