Canonical Allele Identifier: CA16032804

Gene: APC

Linked Data

• dbSNP Id: rs2149935637
• MyVariant Identifiers: chr5:g.112176537A>T (hg19) ; chr5:g.112840840A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840840A>T , CM000667.2:g.112840840A>T	GRCh38
NC_000005.9:g.112176537A>T , CM000667.1:g.112176537A>T	GRCh37
NC_000005.8:g.112204436A>T	NCBI36
NG_008481.4:g.153320A>T , LRG_130:g.153320A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5300A>T	ENSP00000473355.2:p.Gln1767Leu
ENST00000505350.2:c.*5252A>T	ENSP00000481752.1:n.*5252A>T
ENST00000507379.6:c.5192A>T	ENSP00000423224.2:p.Gln1731Leu
ENST00000509732.6:c.5246A>T	ENSP00000426541.2:p.Gln1749Leu
ENST00000512211.7:c.5246A>T	ENSP00000423828.3:p.Gln1749Leu
ENST00000257430.9:c.5246A>T MANE Select	ENSP00000257430.4:p.Gln1749Leu
ENST00000257430.8:c.5246A>T	ENSP00000257430.4:p.Gln1749Leu
ENST00000508376.6:c.5246A>T	ENSP00000427089.2:p.Gln1749Leu
ENST00000508624.5:c.*4568A>T	ENSP00000424265.1:n.*4568A>T
ENST00000520401.1:c.230+11868A>T
NM_000038.5:c.5246A>T	NP_000029.2:p.Gln1749Leu
NM_001127510.2:c.5246A>T	NP_001120982.1:p.Gln1749Leu
NM_001127511.2:c.5192A>T	NP_001120983.2:p.Gln1731Leu
NM_001354895.1:c.5246A>T	NP_001341824.1:p.Gln1749Leu
NM_001354896.1:c.5300A>T	NP_001341825.1:p.Gln1767Leu
NM_001354897.1:c.5276A>T	NP_001341826.1:p.Gln1759Leu
NM_001354898.1:c.5171A>T	NP_001341827.1:p.Gln1724Leu
NM_001354899.1:c.5162A>T	NP_001341828.1:p.Gln1721Leu
NM_001354900.1:c.5123A>T	NP_001341829.1:p.Gln1708Leu
NM_001354901.1:c.5069A>T	NP_001341830.1:p.Gln1690Leu
NM_001354902.1:c.4973A>T	NP_001341831.1:p.Gln1658Leu
NM_001354903.1:c.4943A>T	NP_001341832.1:p.Gln1648Leu
NM_001354904.1:c.4868A>T	NP_001341833.1:p.Gln1623Leu
NM_001354905.1:c.4766A>T	NP_001341834.1:p.Gln1589Leu
NM_001354906.1:c.4397A>T	NP_001341835.1:p.Gln1466Leu
NM_000038.6:c.5246A>T MANE Select	NP_000029.2:p.Gln1749Leu
NM_001127510.3:c.5246A>T	NP_001120982.1:p.Gln1749Leu
NM_001127511.3:c.5192A>T	NP_001120983.2:p.Gln1731Leu
NM_001354895.2:c.5246A>T	NP_001341824.1:p.Gln1749Leu
NM_001354896.2:c.5300A>T	NP_001341825.1:p.Gln1767Leu
NM_001354897.2:c.5276A>T	NP_001341826.1:p.Gln1759Leu
NM_001354898.2:c.5171A>T	NP_001341827.1:p.Gln1724Leu
NM_001354899.2:c.5162A>T	NP_001341828.1:p.Gln1721Leu
NM_001354900.2:c.5123A>T	NP_001341829.1:p.Gln1708Leu
NM_001354901.2:c.5069A>T	NP_001341830.1:p.Gln1690Leu
NM_001354902.2:c.4973A>T	NP_001341831.1:p.Gln1658Leu
NM_001354903.2:c.4943A>T	NP_001341832.1:p.Gln1648Leu
NM_001354904.2:c.4868A>T	NP_001341833.1:p.Gln1623Leu
NM_001354905.2:c.4766A>T	NP_001341834.1:p.Gln1589Leu
NM_001354906.2:c.4397A>T	NP_001341835.1:p.Gln1466Leu