Canonical Allele Identifier: CA16025421

Gene: APC

Linked Data

• dbSNP Id: rs750857896
• MyVariant Identifiers: chr5:g.112170779G>T (hg19) ; chr5:g.112835082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835082G>T , CM000667.2:g.112835082G>T	GRCh38
NC_000005.9:g.112170779G>T , CM000667.1:g.112170779G>T	GRCh37
NC_000005.8:g.112198678G>T	NCBI36
NG_008481.4:g.147562G>T , LRG_130:g.147562G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1540G>T	ENSP00000484935.2:n.1540G>T
ENST00000504915.3:c.1929G>T	ENSP00000473355.2:p.Gln643His
ENST00000505350.2:c.*1881G>T	ENSP00000481752.1:n.*1881G>T
ENST00000507379.6:c.1821G>T	ENSP00000423224.2:p.Gln607His
ENST00000509732.6:c.1875G>T	ENSP00000426541.2:p.Gln625His
ENST00000512211.7:c.1875G>T	ENSP00000423828.3:p.Gln625His
ENST00000257430.9:c.1875G>T MANE Select	ENSP00000257430.4:p.Gln625His
ENST00000257430.8:c.1875G>T	ENSP00000257430.4:p.Gln625His
ENST00000502371.2:c.228G>T
ENST00000504915.2:c.564G>T	ENSP00000473355.1:p.Gln188His
ENST00000507379.5:c.1821G>T	ENSP00000423224.1:p.Gln607His
ENST00000508376.6:c.1875G>T	ENSP00000427089.2:p.Gln625His
ENST00000508624.5:c.*1197G>T	ENSP00000424265.1:n.*1197G>T
ENST00000512211.6:c.1875G>T	ENSP00000423828.2:p.Gln625His
ENST00000520401.1:c.230+6110G>T
NM_000038.5:c.1875G>T	NP_000029.2:p.Gln625His
NM_001127510.2:c.1875G>T	NP_001120982.1:p.Gln625His
NM_001127511.2:c.1821G>T	NP_001120983.2:p.Gln607His
NM_001354895.1:c.1875G>T	NP_001341824.1:p.Gln625His
NM_001354896.1:c.1929G>T	NP_001341825.1:p.Gln643His
NM_001354897.1:c.1905G>T	NP_001341826.1:p.Gln635His
NM_001354898.1:c.1800G>T	NP_001341827.1:p.Gln600His
NM_001354899.1:c.1791G>T	NP_001341828.1:p.Gln597His
NM_001354900.1:c.1752G>T	NP_001341829.1:p.Gln584His
NM_001354901.1:c.1698G>T	NP_001341830.1:p.Gln566His
NM_001354902.1:c.1602G>T	NP_001341831.1:p.Gln534His
NM_001354903.1:c.1572G>T	NP_001341832.1:p.Gln524His
NM_001354904.1:c.1497G>T	NP_001341833.1:p.Gln499His
NM_001354905.1:c.1395G>T	NP_001341834.1:p.Gln465His
NM_001354906.1:c.1026G>T	NP_001341835.1:p.Gln342His
NM_000038.6:c.1875G>T MANE Select	NP_000029.2:p.Gln625His
NM_001127510.3:c.1875G>T	NP_001120982.1:p.Gln625His
NM_001127511.3:c.1821G>T	NP_001120983.2:p.Gln607His
NM_001354895.2:c.1875G>T	NP_001341824.1:p.Gln625His
NM_001354896.2:c.1929G>T	NP_001341825.1:p.Gln643His
NM_001354897.2:c.1905G>T	NP_001341826.1:p.Gln635His
NM_001354898.2:c.1800G>T	NP_001341827.1:p.Gln600His
NM_001354899.2:c.1791G>T	NP_001341828.1:p.Gln597His
NM_001354900.2:c.1752G>T	NP_001341829.1:p.Gln584His
NM_001354901.2:c.1698G>T	NP_001341830.1:p.Gln566His
NM_001354902.2:c.1602G>T	NP_001341831.1:p.Gln534His
NM_001354903.2:c.1572G>T	NP_001341832.1:p.Gln524His
NM_001354904.2:c.1497G>T	NP_001341833.1:p.Gln499His
NM_001354905.2:c.1395G>T	NP_001341834.1:p.Gln465His
NM_001354906.2:c.1026G>T	NP_001341835.1:p.Gln342His