Canonical Allele Identifier: CA16034573
Community Standard Title: NM_000038.6(APC):c.6050C>T (p.Thr2017Ile)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841644C>T , CM000667.2:g.112841644C>T GRCh38
NC_000005.9:g.112177341C>T , CM000667.1:g.112177341C>T GRCh37
NC_000005.8:g.112205240C>T NCBI36
NG_008481.4:g.154124C>T , LRG_130:g.154124C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6050C>T MANE Select NP_000029.2:p.Thr2017Ile
ENST00000257430.9:c.6050C>T MANE Select ENSP00000257430.4:p.Thr2017Ile
NM_000038.5:c.6050C>T NP_000029.2:p.Thr2017Ile
NM_001127510.2:c.6050C>T NP_001120982.1:p.Thr2017Ile
NM_001127510.3:c.6050C>T NP_001120982.1:p.Thr2017Ile
NM_001127511.2:c.5996C>T NP_001120983.2:p.Thr1999Ile
NM_001127511.3:c.5996C>T NP_001120983.2:p.Thr1999Ile
NM_001354895.1:c.6050C>T NP_001341824.1:p.Thr2017Ile
NM_001354895.2:c.6050C>T NP_001341824.1:p.Thr2017Ile
NM_001354896.1:c.6104C>T NP_001341825.1:p.Thr2035Ile
NM_001354896.2:c.6104C>T NP_001341825.1:p.Thr2035Ile
NM_001354897.1:c.6080C>T NP_001341826.1:p.Thr2027Ile
NM_001354897.2:c.6080C>T NP_001341826.1:p.Thr2027Ile
NM_001354898.1:c.5975C>T NP_001341827.1:p.Thr1992Ile
NM_001354898.2:c.5975C>T NP_001341827.1:p.Thr1992Ile
NM_001354899.1:c.5966C>T NP_001341828.1:p.Thr1989Ile
NM_001354899.2:c.5966C>T NP_001341828.1:p.Thr1989Ile
NM_001354900.1:c.5927C>T NP_001341829.1:p.Thr1976Ile
NM_001354900.2:c.5927C>T NP_001341829.1:p.Thr1976Ile
NM_001354901.1:c.5873C>T NP_001341830.1:p.Thr1958Ile
NM_001354901.2:c.5873C>T NP_001341830.1:p.Thr1958Ile
NM_001354902.1:c.5777C>T NP_001341831.1:p.Thr1926Ile
NM_001354902.2:c.5777C>T NP_001341831.1:p.Thr1926Ile
NM_001354903.1:c.5747C>T NP_001341832.1:p.Thr1916Ile
NM_001354903.2:c.5747C>T NP_001341832.1:p.Thr1916Ile
NM_001354904.1:c.5672C>T NP_001341833.1:p.Thr1891Ile
NM_001354904.2:c.5672C>T NP_001341833.1:p.Thr1891Ile
NM_001354905.1:c.5570C>T NP_001341834.1:p.Thr1857Ile
NM_001354905.2:c.5570C>T NP_001341834.1:p.Thr1857Ile
NM_001354906.1:c.5201C>T NP_001341835.1:p.Thr1734Ile
NM_001354906.2:c.5201C>T NP_001341835.1:p.Thr1734Ile
ENST00000257430.8:c.6050C>T ENSP00000257430.4:p.Thr2017Ile
ENST00000504915.3:c.6104C>T ENSP00000473355.2:p.Thr2035Ile
ENST00000505350.2:c.*6056C>T ENSP00000481752.1:n.*6056C>T
ENST00000507379.6:c.5996C>T ENSP00000423224.2:p.Thr1999Ile
ENST00000508376.6:c.6050C>T ENSP00000427089.2:p.Thr2017Ile
ENST00000508624.5:c.*5372C>T ENSP00000424265.1:n.*5372C>T
ENST00000509732.6:c.6050C>T ENSP00000426541.2:p.Thr2017Ile
ENST00000512211.7:c.6050C>T ENSP00000423828.3:p.Thr2017Ile
ENST00000520401.1:c.230+12672C>T