Canonical Allele Identifier: CA16032528

Gene: APC

Linked Data

• ClinVar Variation Id: 1719410
• ClinVar RCV Id: RCV003743893
• MyVariant Identifiers: chr5:g.112176414T>C (hg19) ; chr5:g.112840717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840717T>C , CM000667.2:g.112840717T>C	GRCh38
NC_000005.9:g.112176414T>C , CM000667.1:g.112176414T>C	GRCh37
NC_000005.8:g.112204313T>C	NCBI36
NG_008481.4:g.153197T>C , LRG_130:g.153197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5177T>C	ENSP00000473355.2:p.Val1726Ala
ENST00000505350.2:c.*5129T>C	ENSP00000481752.1:n.*5129T>C
ENST00000507379.6:c.5069T>C	ENSP00000423224.2:p.Val1690Ala
ENST00000509732.6:c.5123T>C	ENSP00000426541.2:p.Val1708Ala
ENST00000512211.7:c.5123T>C	ENSP00000423828.3:p.Val1708Ala
ENST00000257430.9:c.5123T>C MANE Select	ENSP00000257430.4:p.Val1708Ala
ENST00000257430.8:c.5123T>C	ENSP00000257430.4:p.Val1708Ala
ENST00000508376.6:c.5123T>C	ENSP00000427089.2:p.Val1708Ala
ENST00000508624.5:c.*4445T>C	ENSP00000424265.1:n.*4445T>C
ENST00000520401.1:c.230+11745T>C
NM_000038.5:c.5123T>C	NP_000029.2:p.Val1708Ala
NM_001127510.2:c.5123T>C	NP_001120982.1:p.Val1708Ala
NM_001127511.2:c.5069T>C	NP_001120983.2:p.Val1690Ala
NM_001354895.1:c.5123T>C	NP_001341824.1:p.Val1708Ala
NM_001354896.1:c.5177T>C	NP_001341825.1:p.Val1726Ala
NM_001354897.1:c.5153T>C	NP_001341826.1:p.Val1718Ala
NM_001354898.1:c.5048T>C	NP_001341827.1:p.Val1683Ala
NM_001354899.1:c.5039T>C	NP_001341828.1:p.Val1680Ala
NM_001354900.1:c.5000T>C	NP_001341829.1:p.Val1667Ala
NM_001354901.1:c.4946T>C	NP_001341830.1:p.Val1649Ala
NM_001354902.1:c.4850T>C	NP_001341831.1:p.Val1617Ala
NM_001354903.1:c.4820T>C	NP_001341832.1:p.Val1607Ala
NM_001354904.1:c.4745T>C	NP_001341833.1:p.Val1582Ala
NM_001354905.1:c.4643T>C	NP_001341834.1:p.Val1548Ala
NM_001354906.1:c.4274T>C	NP_001341835.1:p.Val1425Ala
NM_000038.6:c.5123T>C MANE Select	NP_000029.2:p.Val1708Ala
NM_001127510.3:c.5123T>C	NP_001120982.1:p.Val1708Ala
NM_001127511.3:c.5069T>C	NP_001120983.2:p.Val1690Ala
NM_001354895.2:c.5123T>C	NP_001341824.1:p.Val1708Ala
NM_001354896.2:c.5177T>C	NP_001341825.1:p.Val1726Ala
NM_001354897.2:c.5153T>C	NP_001341826.1:p.Val1718Ala
NM_001354898.2:c.5048T>C	NP_001341827.1:p.Val1683Ala
NM_001354899.2:c.5039T>C	NP_001341828.1:p.Val1680Ala
NM_001354900.2:c.5000T>C	NP_001341829.1:p.Val1667Ala
NM_001354901.2:c.4946T>C	NP_001341830.1:p.Val1649Ala
NM_001354902.2:c.4850T>C	NP_001341831.1:p.Val1617Ala
NM_001354903.2:c.4820T>C	NP_001341832.1:p.Val1607Ala
NM_001354904.2:c.4745T>C	NP_001341833.1:p.Val1582Ala
NM_001354905.2:c.4643T>C	NP_001341834.1:p.Val1548Ala
NM_001354906.2:c.4274T>C	NP_001341835.1:p.Val1425Ala