Canonical Allele Identifier: CA16035812
Community Standard Title: NM_000038.6(APC):c.6620C>A (p.Ser2207Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842214C>A , CM000667.2:g.112842214C>A GRCh38
NC_000005.9:g.112177911C>A , CM000667.1:g.112177911C>A GRCh37
NC_000005.8:g.112205810C>A NCBI36
NG_008481.4:g.154694C>A , LRG_130:g.154694C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6620C>A MANE Select NP_000029.2:p.Ser2207Ter
ENST00000257430.9:c.6620C>A MANE Select ENSP00000257430.4:p.Ser2207Ter
NM_000038.5:c.6620C>A NP_000029.2:p.Ser2207Ter
NM_001127510.2:c.6620C>A NP_001120982.1:p.Ser2207Ter
NM_001127510.3:c.6620C>A NP_001120982.1:p.Ser2207Ter
NM_001127511.2:c.6566C>A NP_001120983.2:p.Ser2189Ter
NM_001127511.3:c.6566C>A NP_001120983.2:p.Ser2189Ter
NM_001354895.1:c.6620C>A NP_001341824.1:p.Ser2207Ter
NM_001354895.2:c.6620C>A NP_001341824.1:p.Ser2207Ter
NM_001354896.1:c.6674C>A NP_001341825.1:p.Ser2225Ter
NM_001354896.2:c.6674C>A NP_001341825.1:p.Ser2225Ter
NM_001354897.1:c.6650C>A NP_001341826.1:p.Ser2217Ter
NM_001354897.2:c.6650C>A NP_001341826.1:p.Ser2217Ter
NM_001354898.1:c.6545C>A NP_001341827.1:p.Ser2182Ter
NM_001354898.2:c.6545C>A NP_001341827.1:p.Ser2182Ter
NM_001354899.1:c.6536C>A NP_001341828.1:p.Ser2179Ter
NM_001354899.2:c.6536C>A NP_001341828.1:p.Ser2179Ter
NM_001354900.1:c.6497C>A NP_001341829.1:p.Ser2166Ter
NM_001354900.2:c.6497C>A NP_001341829.1:p.Ser2166Ter
NM_001354901.1:c.6443C>A NP_001341830.1:p.Ser2148Ter
NM_001354901.2:c.6443C>A NP_001341830.1:p.Ser2148Ter
NM_001354902.1:c.6347C>A NP_001341831.1:p.Ser2116Ter
NM_001354902.2:c.6347C>A NP_001341831.1:p.Ser2116Ter
NM_001354903.1:c.6317C>A NP_001341832.1:p.Ser2106Ter
NM_001354903.2:c.6317C>A NP_001341832.1:p.Ser2106Ter
NM_001354904.1:c.6242C>A NP_001341833.1:p.Ser2081Ter
NM_001354904.2:c.6242C>A NP_001341833.1:p.Ser2081Ter
NM_001354905.1:c.6140C>A NP_001341834.1:p.Ser2047Ter
NM_001354905.2:c.6140C>A NP_001341834.1:p.Ser2047Ter
NM_001354906.1:c.5771C>A NP_001341835.1:p.Ser1924Ter
NM_001354906.2:c.5771C>A NP_001341835.1:p.Ser1924Ter
ENST00000257430.8:c.6620C>A ENSP00000257430.4:p.Ser2207Ter
ENST00000504915.3:c.6674C>A ENSP00000473355.2:p.Ser2225Ter
ENST00000505350.2:c.*6626C>A ENSP00000481752.1:n.*6626C>A
ENST00000507379.6:c.6566C>A ENSP00000423224.2:p.Ser2189Ter
ENST00000508376.6:c.6620C>A ENSP00000427089.2:p.Ser2207Ter
ENST00000508624.5:c.*5942C>A ENSP00000424265.1:n.*5942C>A
ENST00000509732.6:c.6620C>A ENSP00000426541.2:p.Ser2207Ter
ENST00000512211.7:c.6620C>A ENSP00000423828.3:p.Ser2207Ter
ENST00000520401.1:c.230+13242C>A