Canonical Allele Identifier: CA16032318

Gene: APC

Linked Data

• ClinVar Variation Id: 630006
• ClinVar RCV Id: RCV000774872
• dbSNP Id: rs1561597087
• MyVariant Identifiers: chr5:g.112176312G>C (hg19) ; chr5:g.112840615G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840615G>C , CM000667.2:g.112840615G>C	GRCh38
NC_000005.9:g.112176312G>C , CM000667.1:g.112176312G>C	GRCh37
NC_000005.8:g.112204211G>C	NCBI36
NG_008481.4:g.153095G>C , LRG_130:g.153095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5075G>C	ENSP00000473355.2:p.Gly1692Ala
ENST00000505350.2:c.*5027G>C	ENSP00000481752.1:n.*5027G>C
ENST00000507379.6:c.4967G>C	ENSP00000423224.2:p.Gly1656Ala
ENST00000509732.6:c.5021G>C	ENSP00000426541.2:p.Gly1674Ala
ENST00000512211.7:c.5021G>C	ENSP00000423828.3:p.Gly1674Ala
ENST00000257430.9:c.5021G>C MANE Select	ENSP00000257430.4:p.Gly1674Ala
ENST00000257430.8:c.5021G>C	ENSP00000257430.4:p.Gly1674Ala
ENST00000508376.6:c.5021G>C	ENSP00000427089.2:p.Gly1674Ala
ENST00000508624.5:c.*4343G>C	ENSP00000424265.1:n.*4343G>C
ENST00000520401.1:c.230+11643G>C
NM_000038.5:c.5021G>C	NP_000029.2:p.Gly1674Ala
NM_001127510.2:c.5021G>C	NP_001120982.1:p.Gly1674Ala
NM_001127511.2:c.4967G>C	NP_001120983.2:p.Gly1656Ala
NM_001354895.1:c.5021G>C	NP_001341824.1:p.Gly1674Ala
NM_001354896.1:c.5075G>C	NP_001341825.1:p.Gly1692Ala
NM_001354897.1:c.5051G>C	NP_001341826.1:p.Gly1684Ala
NM_001354898.1:c.4946G>C	NP_001341827.1:p.Gly1649Ala
NM_001354899.1:c.4937G>C	NP_001341828.1:p.Gly1646Ala
NM_001354900.1:c.4898G>C	NP_001341829.1:p.Gly1633Ala
NM_001354901.1:c.4844G>C	NP_001341830.1:p.Gly1615Ala
NM_001354902.1:c.4748G>C	NP_001341831.1:p.Gly1583Ala
NM_001354903.1:c.4718G>C	NP_001341832.1:p.Gly1573Ala
NM_001354904.1:c.4643G>C	NP_001341833.1:p.Gly1548Ala
NM_001354905.1:c.4541G>C	NP_001341834.1:p.Gly1514Ala
NM_001354906.1:c.4172G>C	NP_001341835.1:p.Gly1391Ala
NM_000038.6:c.5021G>C MANE Select	NP_000029.2:p.Gly1674Ala
NM_001127510.3:c.5021G>C	NP_001120982.1:p.Gly1674Ala
NM_001127511.3:c.4967G>C	NP_001120983.2:p.Gly1656Ala
NM_001354895.2:c.5021G>C	NP_001341824.1:p.Gly1674Ala
NM_001354896.2:c.5075G>C	NP_001341825.1:p.Gly1692Ala
NM_001354897.2:c.5051G>C	NP_001341826.1:p.Gly1684Ala
NM_001354898.2:c.4946G>C	NP_001341827.1:p.Gly1649Ala
NM_001354899.2:c.4937G>C	NP_001341828.1:p.Gly1646Ala
NM_001354900.2:c.4898G>C	NP_001341829.1:p.Gly1633Ala
NM_001354901.2:c.4844G>C	NP_001341830.1:p.Gly1615Ala
NM_001354902.2:c.4748G>C	NP_001341831.1:p.Gly1583Ala
NM_001354903.2:c.4718G>C	NP_001341832.1:p.Gly1573Ala
NM_001354904.2:c.4643G>C	NP_001341833.1:p.Gly1548Ala
NM_001354905.2:c.4541G>C	NP_001341834.1:p.Gly1514Ala
NM_001354906.2:c.4172G>C	NP_001341835.1:p.Gly1391Ala