Canonical Allele Identifier: CA16032881

Gene: APC

Linked Data

• ClinVar Variation Id: 627696
• ClinVar RCV Id: RCV000771409 ; RCV003653279
• dbSNP Id: rs1554086604
• gnomAD v4: 5-112840879-A-C
• MyVariant Identifiers: chr5:g.112176576A>C (hg19) ; chr5:g.112840879A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840879A>C , CM000667.2:g.112840879A>C	GRCh38
NC_000005.9:g.112176576A>C , CM000667.1:g.112176576A>C	GRCh37
NC_000005.8:g.112204475A>C	NCBI36
NG_008481.4:g.153359A>C , LRG_130:g.153359A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5339A>C	ENSP00000473355.2:p.Lys1780Thr
ENST00000505350.2:c.*5291A>C	ENSP00000481752.1:n.*5291A>C
ENST00000507379.6:c.5231A>C	ENSP00000423224.2:p.Lys1744Thr
ENST00000509732.6:c.5285A>C	ENSP00000426541.2:p.Lys1762Thr
ENST00000512211.7:c.5285A>C	ENSP00000423828.3:p.Lys1762Thr
ENST00000257430.9:c.5285A>C MANE Select	ENSP00000257430.4:p.Lys1762Thr
ENST00000257430.8:c.5285A>C	ENSP00000257430.4:p.Lys1762Thr
ENST00000508376.6:c.5285A>C	ENSP00000427089.2:p.Lys1762Thr
ENST00000508624.5:c.*4607A>C	ENSP00000424265.1:n.*4607A>C
ENST00000520401.1:c.230+11907A>C
NM_000038.5:c.5285A>C	NP_000029.2:p.Lys1762Thr
NM_001127510.2:c.5285A>C	NP_001120982.1:p.Lys1762Thr
NM_001127511.2:c.5231A>C	NP_001120983.2:p.Lys1744Thr
NM_001354895.1:c.5285A>C	NP_001341824.1:p.Lys1762Thr
NM_001354896.1:c.5339A>C	NP_001341825.1:p.Lys1780Thr
NM_001354897.1:c.5315A>C	NP_001341826.1:p.Lys1772Thr
NM_001354898.1:c.5210A>C	NP_001341827.1:p.Lys1737Thr
NM_001354899.1:c.5201A>C	NP_001341828.1:p.Lys1734Thr
NM_001354900.1:c.5162A>C	NP_001341829.1:p.Lys1721Thr
NM_001354901.1:c.5108A>C	NP_001341830.1:p.Lys1703Thr
NM_001354902.1:c.5012A>C	NP_001341831.1:p.Lys1671Thr
NM_001354903.1:c.4982A>C	NP_001341832.1:p.Lys1661Thr
NM_001354904.1:c.4907A>C	NP_001341833.1:p.Lys1636Thr
NM_001354905.1:c.4805A>C	NP_001341834.1:p.Lys1602Thr
NM_001354906.1:c.4436A>C	NP_001341835.1:p.Lys1479Thr
NM_000038.6:c.5285A>C MANE Select	NP_000029.2:p.Lys1762Thr
NM_001127510.3:c.5285A>C	NP_001120982.1:p.Lys1762Thr
NM_001127511.3:c.5231A>C	NP_001120983.2:p.Lys1744Thr
NM_001354895.2:c.5285A>C	NP_001341824.1:p.Lys1762Thr
NM_001354896.2:c.5339A>C	NP_001341825.1:p.Lys1780Thr
NM_001354897.2:c.5315A>C	NP_001341826.1:p.Lys1772Thr
NM_001354898.2:c.5210A>C	NP_001341827.1:p.Lys1737Thr
NM_001354899.2:c.5201A>C	NP_001341828.1:p.Lys1734Thr
NM_001354900.2:c.5162A>C	NP_001341829.1:p.Lys1721Thr
NM_001354901.2:c.5108A>C	NP_001341830.1:p.Lys1703Thr
NM_001354902.2:c.5012A>C	NP_001341831.1:p.Lys1671Thr
NM_001354903.2:c.4982A>C	NP_001341832.1:p.Lys1661Thr
NM_001354904.2:c.4907A>C	NP_001341833.1:p.Lys1636Thr
NM_001354905.2:c.4805A>C	NP_001341834.1:p.Lys1602Thr
NM_001354906.2:c.4436A>C	NP_001341835.1:p.Lys1479Thr