Canonical Allele Identifier: CA16034569
Community Standard Title: NM_000038.6(APC):c.6049A>G (p.Thr2017Ala)
Gene: APC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841643A>G , CM000667.2:g.112841643A>G GRCh38
NC_000005.9:g.112177340A>G , CM000667.1:g.112177340A>G GRCh37
NC_000005.8:g.112205239A>G NCBI36
NG_008481.4:g.154123A>G , LRG_130:g.154123A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6049A>G MANE Select NP_000029.2:p.Thr2017Ala
ENST00000257430.9:c.6049A>G MANE Select ENSP00000257430.4:p.Thr2017Ala
NM_000038.5:c.6049A>G NP_000029.2:p.Thr2017Ala
NM_001127510.2:c.6049A>G NP_001120982.1:p.Thr2017Ala
NM_001127510.3:c.6049A>G NP_001120982.1:p.Thr2017Ala
NM_001127511.2:c.5995A>G NP_001120983.2:p.Thr1999Ala
NM_001127511.3:c.5995A>G NP_001120983.2:p.Thr1999Ala
NM_001354895.1:c.6049A>G NP_001341824.1:p.Thr2017Ala
NM_001354895.2:c.6049A>G NP_001341824.1:p.Thr2017Ala
NM_001354896.1:c.6103A>G NP_001341825.1:p.Thr2035Ala
NM_001354896.2:c.6103A>G NP_001341825.1:p.Thr2035Ala
NM_001354897.1:c.6079A>G NP_001341826.1:p.Thr2027Ala
NM_001354897.2:c.6079A>G NP_001341826.1:p.Thr2027Ala
NM_001354898.1:c.5974A>G NP_001341827.1:p.Thr1992Ala
NM_001354898.2:c.5974A>G NP_001341827.1:p.Thr1992Ala
NM_001354899.1:c.5965A>G NP_001341828.1:p.Thr1989Ala
NM_001354899.2:c.5965A>G NP_001341828.1:p.Thr1989Ala
NM_001354900.1:c.5926A>G NP_001341829.1:p.Thr1976Ala
NM_001354900.2:c.5926A>G NP_001341829.1:p.Thr1976Ala
NM_001354901.1:c.5872A>G NP_001341830.1:p.Thr1958Ala
NM_001354901.2:c.5872A>G NP_001341830.1:p.Thr1958Ala
NM_001354902.1:c.5776A>G NP_001341831.1:p.Thr1926Ala
NM_001354902.2:c.5776A>G NP_001341831.1:p.Thr1926Ala
NM_001354903.1:c.5746A>G NP_001341832.1:p.Thr1916Ala
NM_001354903.2:c.5746A>G NP_001341832.1:p.Thr1916Ala
NM_001354904.1:c.5671A>G NP_001341833.1:p.Thr1891Ala
NM_001354904.2:c.5671A>G NP_001341833.1:p.Thr1891Ala
NM_001354905.1:c.5569A>G NP_001341834.1:p.Thr1857Ala
NM_001354905.2:c.5569A>G NP_001341834.1:p.Thr1857Ala
NM_001354906.1:c.5200A>G NP_001341835.1:p.Thr1734Ala
NM_001354906.2:c.5200A>G NP_001341835.1:p.Thr1734Ala
ENST00000257430.8:c.6049A>G ENSP00000257430.4:p.Thr2017Ala
ENST00000504915.3:c.6103A>G ENSP00000473355.2:p.Thr2035Ala
ENST00000505350.2:c.*6055A>G ENSP00000481752.1:n.*6055A>G
ENST00000507379.6:c.5995A>G ENSP00000423224.2:p.Thr1999Ala
ENST00000508376.6:c.6049A>G ENSP00000427089.2:p.Thr2017Ala
ENST00000508624.5:c.*5371A>G ENSP00000424265.1:n.*5371A>G
ENST00000509732.6:c.6049A>G ENSP00000426541.2:p.Thr2017Ala
ENST00000512211.7:c.6049A>G ENSP00000423828.3:p.Thr2017Ala
ENST00000520401.1:c.230+12671A>G
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