Canonical Allele Identifier: CA16032259

Gene: APC

Linked Data

• ClinVar Variation Id: 651065
• ClinVar RCV Id: RCV001185620 ; RCV003151152 ; RCV003535964
• dbSNP Id: rs1561596883
• gnomAD v4: 5-112840587-C-G
• MyVariant Identifiers: chr5:g.112176284C>G (hg19) ; chr5:g.112840587C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840587C>G , CM000667.2:g.112840587C>G	GRCh38
NC_000005.9:g.112176284C>G , CM000667.1:g.112176284C>G	GRCh37
NC_000005.8:g.112204183C>G	NCBI36
NG_008481.4:g.153067C>G , LRG_130:g.153067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5047C>G	ENSP00000473355.2:p.Pro1683Ala
ENST00000505350.2:c.*4999C>G	ENSP00000481752.1:n.*4999C>G
ENST00000507379.6:c.4939C>G	ENSP00000423224.2:p.Pro1647Ala
ENST00000509732.6:c.4993C>G	ENSP00000426541.2:p.Pro1665Ala
ENST00000512211.7:c.4993C>G	ENSP00000423828.3:p.Pro1665Ala
ENST00000257430.9:c.4993C>G MANE Select	ENSP00000257430.4:p.Pro1665Ala
ENST00000257430.8:c.4993C>G	ENSP00000257430.4:p.Pro1665Ala
ENST00000508376.6:c.4993C>G	ENSP00000427089.2:p.Pro1665Ala
ENST00000508624.5:c.*4315C>G	ENSP00000424265.1:n.*4315C>G
ENST00000520401.1:c.230+11615C>G
NM_000038.5:c.4993C>G	NP_000029.2:p.Pro1665Ala
NM_001127510.2:c.4993C>G	NP_001120982.1:p.Pro1665Ala
NM_001127511.2:c.4939C>G	NP_001120983.2:p.Pro1647Ala
NM_001354895.1:c.4993C>G	NP_001341824.1:p.Pro1665Ala
NM_001354896.1:c.5047C>G	NP_001341825.1:p.Pro1683Ala
NM_001354897.1:c.5023C>G	NP_001341826.1:p.Pro1675Ala
NM_001354898.1:c.4918C>G	NP_001341827.1:p.Pro1640Ala
NM_001354899.1:c.4909C>G	NP_001341828.1:p.Pro1637Ala
NM_001354900.1:c.4870C>G	NP_001341829.1:p.Pro1624Ala
NM_001354901.1:c.4816C>G	NP_001341830.1:p.Pro1606Ala
NM_001354902.1:c.4720C>G	NP_001341831.1:p.Pro1574Ala
NM_001354903.1:c.4690C>G	NP_001341832.1:p.Pro1564Ala
NM_001354904.1:c.4615C>G	NP_001341833.1:p.Pro1539Ala
NM_001354905.1:c.4513C>G	NP_001341834.1:p.Pro1505Ala
NM_001354906.1:c.4144C>G	NP_001341835.1:p.Pro1382Ala
NM_000038.6:c.4993C>G MANE Select	NP_000029.2:p.Pro1665Ala
NM_001127510.3:c.4993C>G	NP_001120982.1:p.Pro1665Ala
NM_001127511.3:c.4939C>G	NP_001120983.2:p.Pro1647Ala
NM_001354895.2:c.4993C>G	NP_001341824.1:p.Pro1665Ala
NM_001354896.2:c.5047C>G	NP_001341825.1:p.Pro1683Ala
NM_001354897.2:c.5023C>G	NP_001341826.1:p.Pro1675Ala
NM_001354898.2:c.4918C>G	NP_001341827.1:p.Pro1640Ala
NM_001354899.2:c.4909C>G	NP_001341828.1:p.Pro1637Ala
NM_001354900.2:c.4870C>G	NP_001341829.1:p.Pro1624Ala
NM_001354901.2:c.4816C>G	NP_001341830.1:p.Pro1606Ala
NM_001354902.2:c.4720C>G	NP_001341831.1:p.Pro1574Ala
NM_001354903.2:c.4690C>G	NP_001341832.1:p.Pro1564Ala
NM_001354904.2:c.4615C>G	NP_001341833.1:p.Pro1539Ala
NM_001354905.2:c.4513C>G	NP_001341834.1:p.Pro1505Ala
NM_001354906.2:c.4144C>G	NP_001341835.1:p.Pro1382Ala