Canonical Allele Identifier: CA16032543

Gene: APC

Linked Data

• ClinVar Variation Id: 1745553
• ClinVar RCV Id: RCV002344228
• dbSNP Id: rs762798174
• MyVariant Identifiers: chr5:g.112176422C>A (hg19) ; chr5:g.112840725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840725C>A , CM000667.2:g.112840725C>A	GRCh38
NC_000005.9:g.112176422C>A , CM000667.1:g.112176422C>A	GRCh37
NC_000005.8:g.112204321C>A	NCBI36
NG_008481.4:g.153205C>A , LRG_130:g.153205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5185C>A	ENSP00000473355.2:p.Pro1729Thr
ENST00000505350.2:c.*5137C>A	ENSP00000481752.1:n.*5137C>A
ENST00000507379.6:c.5077C>A	ENSP00000423224.2:p.Pro1693Thr
ENST00000509732.6:c.5131C>A	ENSP00000426541.2:p.Pro1711Thr
ENST00000512211.7:c.5131C>A	ENSP00000423828.3:p.Pro1711Thr
ENST00000257430.9:c.5131C>A MANE Select	ENSP00000257430.4:p.Pro1711Thr
ENST00000257430.8:c.5131C>A	ENSP00000257430.4:p.Pro1711Thr
ENST00000508376.6:c.5131C>A	ENSP00000427089.2:p.Pro1711Thr
ENST00000508624.5:c.*4453C>A	ENSP00000424265.1:n.*4453C>A
ENST00000520401.1:c.230+11753C>A
NM_000038.5:c.5131C>A	NP_000029.2:p.Pro1711Thr
NM_001127510.2:c.5131C>A	NP_001120982.1:p.Pro1711Thr
NM_001127511.2:c.5077C>A	NP_001120983.2:p.Pro1693Thr
NM_001354895.1:c.5131C>A	NP_001341824.1:p.Pro1711Thr
NM_001354896.1:c.5185C>A	NP_001341825.1:p.Pro1729Thr
NM_001354897.1:c.5161C>A	NP_001341826.1:p.Pro1721Thr
NM_001354898.1:c.5056C>A	NP_001341827.1:p.Pro1686Thr
NM_001354899.1:c.5047C>A	NP_001341828.1:p.Pro1683Thr
NM_001354900.1:c.5008C>A	NP_001341829.1:p.Pro1670Thr
NM_001354901.1:c.4954C>A	NP_001341830.1:p.Pro1652Thr
NM_001354902.1:c.4858C>A	NP_001341831.1:p.Pro1620Thr
NM_001354903.1:c.4828C>A	NP_001341832.1:p.Pro1610Thr
NM_001354904.1:c.4753C>A	NP_001341833.1:p.Pro1585Thr
NM_001354905.1:c.4651C>A	NP_001341834.1:p.Pro1551Thr
NM_001354906.1:c.4282C>A	NP_001341835.1:p.Pro1428Thr
NM_000038.6:c.5131C>A MANE Select	NP_000029.2:p.Pro1711Thr
NM_001127510.3:c.5131C>A	NP_001120982.1:p.Pro1711Thr
NM_001127511.3:c.5077C>A	NP_001120983.2:p.Pro1693Thr
NM_001354895.2:c.5131C>A	NP_001341824.1:p.Pro1711Thr
NM_001354896.2:c.5185C>A	NP_001341825.1:p.Pro1729Thr
NM_001354897.2:c.5161C>A	NP_001341826.1:p.Pro1721Thr
NM_001354898.2:c.5056C>A	NP_001341827.1:p.Pro1686Thr
NM_001354899.2:c.5047C>A	NP_001341828.1:p.Pro1683Thr
NM_001354900.2:c.5008C>A	NP_001341829.1:p.Pro1670Thr
NM_001354901.2:c.4954C>A	NP_001341830.1:p.Pro1652Thr
NM_001354902.2:c.4858C>A	NP_001341831.1:p.Pro1620Thr
NM_001354903.2:c.4828C>A	NP_001341832.1:p.Pro1610Thr
NM_001354904.2:c.4753C>A	NP_001341833.1:p.Pro1585Thr
NM_001354905.2:c.4651C>A	NP_001341834.1:p.Pro1551Thr
NM_001354906.2:c.4282C>A	NP_001341835.1:p.Pro1428Thr