Canonical Allele Identifier: CA16031070
Community Standard Title: NM_000038.6(APC):c.4450G>C (p.Asp1484His)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840044G>C , CM000667.2:g.112840044G>C GRCh38
NC_000005.9:g.112175741G>C , CM000667.1:g.112175741G>C GRCh37
NC_000005.8:g.112203640G>C NCBI36
NG_008481.4:g.152524G>C , LRG_130:g.152524G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4450G>C MANE Select NP_000029.2:p.Asp1484His
ENST00000257430.9:c.4450G>C MANE Select ENSP00000257430.4:p.Asp1484His
NM_000038.5:c.4450G>C NP_000029.2:p.Asp1484His
NM_001127510.2:c.4450G>C NP_001120982.1:p.Asp1484His
NM_001127510.3:c.4450G>C NP_001120982.1:p.Asp1484His
NM_001127511.2:c.4396G>C NP_001120983.2:p.Asp1466His
NM_001127511.3:c.4396G>C NP_001120983.2:p.Asp1466His
NM_001354895.1:c.4450G>C NP_001341824.1:p.Asp1484His
NM_001354895.2:c.4450G>C NP_001341824.1:p.Asp1484His
NM_001354896.1:c.4504G>C NP_001341825.1:p.Asp1502His
NM_001354896.2:c.4504G>C NP_001341825.1:p.Asp1502His
NM_001354897.1:c.4480G>C NP_001341826.1:p.Asp1494His
NM_001354897.2:c.4480G>C NP_001341826.1:p.Asp1494His
NM_001354898.1:c.4375G>C NP_001341827.1:p.Asp1459His
NM_001354898.2:c.4375G>C NP_001341827.1:p.Asp1459His
NM_001354899.1:c.4366G>C NP_001341828.1:p.Asp1456His
NM_001354899.2:c.4366G>C NP_001341828.1:p.Asp1456His
NM_001354900.1:c.4327G>C NP_001341829.1:p.Asp1443His
NM_001354900.2:c.4327G>C NP_001341829.1:p.Asp1443His
NM_001354901.1:c.4273G>C NP_001341830.1:p.Asp1425His
NM_001354901.2:c.4273G>C NP_001341830.1:p.Asp1425His
NM_001354902.1:c.4177G>C NP_001341831.1:p.Asp1393His
NM_001354902.2:c.4177G>C NP_001341831.1:p.Asp1393His
NM_001354903.1:c.4147G>C NP_001341832.1:p.Asp1383His
NM_001354903.2:c.4147G>C NP_001341832.1:p.Asp1383His
NM_001354904.1:c.4072G>C NP_001341833.1:p.Asp1358His
NM_001354904.2:c.4072G>C NP_001341833.1:p.Asp1358His
NM_001354905.1:c.3970G>C NP_001341834.1:p.Asp1324His
NM_001354905.2:c.3970G>C NP_001341834.1:p.Asp1324His
NM_001354906.1:c.3601G>C NP_001341835.1:p.Asp1201His
NM_001354906.2:c.3601G>C NP_001341835.1:p.Asp1201His
ENST00000257430.8:c.4450G>C ENSP00000257430.4:p.Asp1484His
ENST00000504915.3:c.4504G>C ENSP00000473355.2:p.Asp1502His
ENST00000505350.2:c.*4456G>C ENSP00000481752.1:n.*4456G>C
ENST00000507379.6:c.4396G>C ENSP00000423224.2:p.Asp1466His
ENST00000508376.6:c.4450G>C ENSP00000427089.2:p.Asp1484His
ENST00000508624.5:c.*3772G>C ENSP00000424265.1:n.*3772G>C
ENST00000509732.6:c.4450G>C ENSP00000426541.2:p.Asp1484His
ENST00000512211.7:c.4450G>C ENSP00000423828.3:p.Asp1484His
ENST00000520401.1:c.230+11072G>C