Canonical Allele Identifier: CA16034570
Community Standard Title: NM_000038.6(APC):c.6049A>T (p.Thr2017Ser)
Gene: APC HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6049A>T MANE Select NP_000029.2:p.Thr2017Ser
ENST00000257430.9:c.6049A>T MANE Select ENSP00000257430.4:p.Thr2017Ser
NM_000038.5:c.6049A>T NP_000029.2:p.Thr2017Ser
NM_001127510.2:c.6049A>T NP_001120982.1:p.Thr2017Ser
NM_001127510.3:c.6049A>T NP_001120982.1:p.Thr2017Ser
NM_001127511.2:c.5995A>T NP_001120983.2:p.Thr1999Ser
NM_001127511.3:c.5995A>T NP_001120983.2:p.Thr1999Ser
NM_001354895.1:c.6049A>T NP_001341824.1:p.Thr2017Ser
NM_001354895.2:c.6049A>T NP_001341824.1:p.Thr2017Ser
NM_001354896.1:c.6103A>T NP_001341825.1:p.Thr2035Ser
NM_001354896.2:c.6103A>T NP_001341825.1:p.Thr2035Ser
NM_001354897.1:c.6079A>T NP_001341826.1:p.Thr2027Ser
NM_001354897.2:c.6079A>T NP_001341826.1:p.Thr2027Ser
NM_001354898.1:c.5974A>T NP_001341827.1:p.Thr1992Ser
NM_001354898.2:c.5974A>T NP_001341827.1:p.Thr1992Ser
NM_001354899.1:c.5965A>T NP_001341828.1:p.Thr1989Ser
NM_001354899.2:c.5965A>T NP_001341828.1:p.Thr1989Ser
NM_001354900.1:c.5926A>T NP_001341829.1:p.Thr1976Ser
NM_001354900.2:c.5926A>T NP_001341829.1:p.Thr1976Ser
NM_001354901.1:c.5872A>T NP_001341830.1:p.Thr1958Ser
NM_001354901.2:c.5872A>T NP_001341830.1:p.Thr1958Ser
NM_001354902.1:c.5776A>T NP_001341831.1:p.Thr1926Ser
NM_001354902.2:c.5776A>T NP_001341831.1:p.Thr1926Ser
NM_001354903.1:c.5746A>T NP_001341832.1:p.Thr1916Ser
NM_001354903.2:c.5746A>T NP_001341832.1:p.Thr1916Ser
NM_001354904.1:c.5671A>T NP_001341833.1:p.Thr1891Ser
NM_001354904.2:c.5671A>T NP_001341833.1:p.Thr1891Ser
NM_001354905.1:c.5569A>T NP_001341834.1:p.Thr1857Ser
NM_001354905.2:c.5569A>T NP_001341834.1:p.Thr1857Ser
NM_001354906.1:c.5200A>T NP_001341835.1:p.Thr1734Ser
NM_001354906.2:c.5200A>T NP_001341835.1:p.Thr1734Ser
ENST00000257430.8:c.6049A>T ENSP00000257430.4:p.Thr2017Ser
ENST00000504915.3:c.6103A>T ENSP00000473355.2:p.Thr2035Ser
ENST00000505350.2:c.*6055A>T ENSP00000481752.1:n.*6055A>T
ENST00000507379.6:c.5995A>T ENSP00000423224.2:p.Thr1999Ser
ENST00000508376.6:c.6049A>T ENSP00000427089.2:p.Thr2017Ser
ENST00000508624.5:c.*5371A>T ENSP00000424265.1:n.*5371A>T
ENST00000509732.6:c.6049A>T ENSP00000426541.2:p.Thr2017Ser
ENST00000512211.7:c.6049A>T ENSP00000423828.3:p.Thr2017Ser
ENST00000520401.1:c.230+12671A>T