Canonical Allele Identifier: CA446209661

Gene: APC

Linked Data

• ClinVar Variation Id: 3074405
• ClinVar RCV Id: RCV004013939
• dbSNP Id: rs2229997
• gnomAD v4: 5-112840844-C-A
• MyVariant Identifiers: chr5:g.112176541C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840844C>A , CM000667.2:g.112840844C>A	GRCh38
NC_000005.9:g.112176541C>A , CM000667.1:g.112176541C>A	GRCh37
NC_000005.8:g.112204440C>A	NCBI36
NG_008481.4:g.153324C>A , LRG_130:g.153324C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5304C>A	ENSP00000473355.2:p.Val1768=
ENST00000505350.2:c.*5256C>A	ENSP00000481752.1:n.*5256C>A
ENST00000507379.6:c.5196C>A	ENSP00000423224.2:p.Val1732=
ENST00000509732.6:c.5250C>A	ENSP00000426541.2:p.Val1750=
ENST00000512211.7:c.5250C>A	ENSP00000423828.3:p.Val1750=
ENST00000257430.9:c.5250C>A MANE Select	ENSP00000257430.4:p.Val1750=
ENST00000257430.8:c.5250C>A	ENSP00000257430.4:p.Val1750=
ENST00000508376.6:c.5250C>A	ENSP00000427089.2:p.Val1750=
ENST00000508624.5:c.*4572C>A	ENSP00000424265.1:n.*4572C>A
ENST00000520401.1:c.230+11872C>A
NM_000038.5:c.5250C>A	NP_000029.2:p.Val1750=
NM_001127510.2:c.5250C>A	NP_001120982.1:p.Val1750=
NM_001127511.2:c.5196C>A	NP_001120983.2:p.Val1732=
NM_001354895.1:c.5250C>A	NP_001341824.1:p.Val1750=
NM_001354896.1:c.5304C>A	NP_001341825.1:p.Val1768=
NM_001354897.1:c.5280C>A	NP_001341826.1:p.Val1760=
NM_001354898.1:c.5175C>A	NP_001341827.1:p.Val1725=
NM_001354899.1:c.5166C>A	NP_001341828.1:p.Val1722=
NM_001354900.1:c.5127C>A	NP_001341829.1:p.Val1709=
NM_001354901.1:c.5073C>A	NP_001341830.1:p.Val1691=
NM_001354902.1:c.4977C>A	NP_001341831.1:p.Val1659=
NM_001354903.1:c.4947C>A	NP_001341832.1:p.Val1649=
NM_001354904.1:c.4872C>A	NP_001341833.1:p.Val1624=
NM_001354905.1:c.4770C>A	NP_001341834.1:p.Val1590=
NM_001354906.1:c.4401C>A	NP_001341835.1:p.Val1467=
NM_000038.6:c.5250C>A MANE Select	NP_000029.2:p.Val1750=
NM_001127510.3:c.5250C>A	NP_001120982.1:p.Val1750=
NM_001127511.3:c.5196C>A	NP_001120983.2:p.Val1732=
NM_001354895.2:c.5250C>A	NP_001341824.1:p.Val1750=
NM_001354896.2:c.5304C>A	NP_001341825.1:p.Val1768=
NM_001354897.2:c.5280C>A	NP_001341826.1:p.Val1760=
NM_001354898.2:c.5175C>A	NP_001341827.1:p.Val1725=
NM_001354899.2:c.5166C>A	NP_001341828.1:p.Val1722=
NM_001354900.2:c.5127C>A	NP_001341829.1:p.Val1709=
NM_001354901.2:c.5073C>A	NP_001341830.1:p.Val1691=
NM_001354902.2:c.4977C>A	NP_001341831.1:p.Val1659=
NM_001354903.2:c.4947C>A	NP_001341832.1:p.Val1649=
NM_001354904.2:c.4872C>A	NP_001341833.1:p.Val1624=
NM_001354905.2:c.4770C>A	NP_001341834.1:p.Val1590=
NM_001354906.2:c.4401C>A	NP_001341835.1:p.Val1467=