Canonical Allele Identifier: CA16034571
Community Standard Title: NM_000038.6(APC):c.6050C>A (p.Thr2017Asn)
Gene: APC HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6050C>A MANE Select NP_000029.2:p.Thr2017Asn
ENST00000257430.9:c.6050C>A MANE Select ENSP00000257430.4:p.Thr2017Asn
NM_000038.5:c.6050C>A NP_000029.2:p.Thr2017Asn
NM_001127510.2:c.6050C>A NP_001120982.1:p.Thr2017Asn
NM_001127510.3:c.6050C>A NP_001120982.1:p.Thr2017Asn
NM_001127511.2:c.5996C>A NP_001120983.2:p.Thr1999Asn
NM_001127511.3:c.5996C>A NP_001120983.2:p.Thr1999Asn
NM_001354895.1:c.6050C>A NP_001341824.1:p.Thr2017Asn
NM_001354895.2:c.6050C>A NP_001341824.1:p.Thr2017Asn
NM_001354896.1:c.6104C>A NP_001341825.1:p.Thr2035Asn
NM_001354896.2:c.6104C>A NP_001341825.1:p.Thr2035Asn
NM_001354897.1:c.6080C>A NP_001341826.1:p.Thr2027Asn
NM_001354897.2:c.6080C>A NP_001341826.1:p.Thr2027Asn
NM_001354898.1:c.5975C>A NP_001341827.1:p.Thr1992Asn
NM_001354898.2:c.5975C>A NP_001341827.1:p.Thr1992Asn
NM_001354899.1:c.5966C>A NP_001341828.1:p.Thr1989Asn
NM_001354899.2:c.5966C>A NP_001341828.1:p.Thr1989Asn
NM_001354900.1:c.5927C>A NP_001341829.1:p.Thr1976Asn
NM_001354900.2:c.5927C>A NP_001341829.1:p.Thr1976Asn
NM_001354901.1:c.5873C>A NP_001341830.1:p.Thr1958Asn
NM_001354901.2:c.5873C>A NP_001341830.1:p.Thr1958Asn
NM_001354902.1:c.5777C>A NP_001341831.1:p.Thr1926Asn
NM_001354902.2:c.5777C>A NP_001341831.1:p.Thr1926Asn
NM_001354903.1:c.5747C>A NP_001341832.1:p.Thr1916Asn
NM_001354903.2:c.5747C>A NP_001341832.1:p.Thr1916Asn
NM_001354904.1:c.5672C>A NP_001341833.1:p.Thr1891Asn
NM_001354904.2:c.5672C>A NP_001341833.1:p.Thr1891Asn
NM_001354905.1:c.5570C>A NP_001341834.1:p.Thr1857Asn
NM_001354905.2:c.5570C>A NP_001341834.1:p.Thr1857Asn
NM_001354906.1:c.5201C>A NP_001341835.1:p.Thr1734Asn
NM_001354906.2:c.5201C>A NP_001341835.1:p.Thr1734Asn
ENST00000257430.8:c.6050C>A ENSP00000257430.4:p.Thr2017Asn
ENST00000504915.3:c.6104C>A ENSP00000473355.2:p.Thr2035Asn
ENST00000505350.2:c.*6056C>A ENSP00000481752.1:n.*6056C>A
ENST00000507379.6:c.5996C>A ENSP00000423224.2:p.Thr1999Asn
ENST00000508376.6:c.6050C>A ENSP00000427089.2:p.Thr2017Asn
ENST00000508624.5:c.*5372C>A ENSP00000424265.1:n.*5372C>A
ENST00000509732.6:c.6050C>A ENSP00000426541.2:p.Thr2017Asn
ENST00000512211.7:c.6050C>A ENSP00000423828.3:p.Thr2017Asn
ENST00000520401.1:c.230+12672C>A