Canonical Allele Identifier: CA2093713
Community Standard Title: NM_212482.4(FN1):c.6878C>T (p.Thr2293Met)
Gene: FN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215368003G>A , CM000664.2:g.215368003G>A GRCh38
NC_000002.11:g.216232726G>A , CM000664.1:g.216232726G>A GRCh37
NC_000002.10:g.215940971G>A NCBI36
NG_012196.1:g.73066C>T

Transcript Alleles

HGVS Amino-acid Change
NM_212482.4:c.6878C>T MANE Select NP_997647.2:p.Thr2293Met
ENST00000354785.11:c.6878C>T MANE Select ENSP00000346839.4:p.Thr2293Met
NM_001306129.1:c.6785C>T NP_001293058.1:p.Thr2262Met
NM_001306129.2:c.6785C>T NP_001293058.2:p.Thr2262Met
NM_001306130.1:c.6248C>T NP_001293059.1:p.Thr2083Met
NM_001306130.2:c.6248C>T NP_001293059.2:p.Thr2083Met
NM_001306131.1:c.6242C>T NP_001293060.1:p.Thr2081Met
NM_001306131.2:c.6242C>T NP_001293060.2:p.Thr2081Met
NM_001306132.1:c.6167C>T NP_001293061.1:p.Thr2056Met
NM_001306132.2:c.6167C>T NP_001293061.2:p.Thr2056Met
NM_001365517.1:c.6608C>T NP_001352446.1:p.Thr2203Met
NM_001365517.2:c.6608C>T NP_001352446.1:p.Thr2203Met
NM_001365518.1:c.6605C>T NP_001352447.1:p.Thr2202Met
NM_001365518.2:c.6605C>T NP_001352447.1:p.Thr2202Met
NM_001365519.1:c.6533C>T NP_001352448.1:p.Thr2178Met
NM_001365519.2:c.6533C>T NP_001352448.1:p.Thr2178Met
NM_001365520.1:c.6530C>T NP_001352449.1:p.Thr2177Met
NM_001365520.2:c.6530C>T NP_001352449.1:p.Thr2177Met
NM_001365521.1:c.6515C>T NP_001352450.1:p.Thr2172Met
NM_001365521.2:c.6515C>T NP_001352450.1:p.Thr2172Met
NM_001365522.1:c.6440C>T NP_001352451.1:p.Thr2147Met
NM_001365522.2:c.6440C>T NP_001352451.1:p.Thr2147Met
NM_001365523.1:c.6260C>T NP_001352452.1:p.Thr2087Met
NM_001365523.2:c.6260C>T NP_001352452.1:p.Thr2087Met
NM_001365524.1:c.6245C>T NP_001352453.1:p.Thr2082Met
NM_001365524.2:c.6245C>T NP_001352453.1:p.Thr2082Met
NM_002026.2:c.6512C>T NP_002017.1:p.Thr2171Met
NM_002026.3:c.6512C>T NP_002017.1:p.Thr2171Met
NM_002026.4:c.6512C>T NP_002017.2:p.Thr2171Met
NM_212474.1:c.5975C>T NP_997639.1:p.Thr1992Met
NM_212474.2:c.5975C>T NP_997639.1:p.Thr1992Met
NM_212474.3:c.5975C>T NP_997639.2:p.Thr1992Met
NM_212476.1:c.6335C>T NP_997641.1:p.Thr2112Met
NM_212476.2:c.6335C>T NP_997641.1:p.Thr2112Met
NM_212476.3:c.6335C>T NP_997641.2:p.Thr2112Met
NM_212478.1:c.6437C>T NP_997643.1:p.Thr2146Met
NM_212478.2:c.6437C>T NP_997643.1:p.Thr2146Met
NM_212478.3:c.6437C>T NP_997643.2:p.Thr2146Met
NM_212482.1:c.6878C>T NP_997647.1:p.Thr2293Met
NM_212482.2:c.6878C>T NP_997647.1:p.Thr2293Met
NM_212482.3:c.6878C>T NP_997647.1:p.Thr2293Met
ENST00000323926.10:c.6785C>T ENSP00000323534.6:p.Thr2262Met
ENST00000336916.8:c.6512C>T ENSP00000338200.4:p.Thr2171Met
ENST00000354785.8:c.6878C>T ENSP00000346839.4:p.Thr2293Met
ENST00000356005.8:c.6335C>T ENSP00000348285.4:p.Thr2112Met
ENST00000357867.8:c.5975C>T ENSP00000350534.4:p.Thr1992Met
ENST00000359671.5:c.6605C>T ENSP00000352696.1:p.Thr2202Met
ENST00000421182.5:c.6167C>T ENSP00000394423.1:p.Thr2056Met
ENST00000432072.6:c.6248C>T ENSP00000399538.2:p.Thr2083Met
ENST00000443816.5:c.6242C>T ENSP00000415018.1:p.Thr2081Met
ENST00000446046.5:c.6437C>T ENSP00000410422.1:p.Thr2146Met
ENST00000456923.5:c.2756C>T ENSP00000416139.1:p.Thr919Met
ENST00000480024.1:n.252C>T
ENST00000492816.6:n.7922C>T
XM_005246397.1:c.6878C>T XP_005246454.1:p.Thr2293Met
XM_005246398.1:c.6803C>T XP_005246455.1:p.Thr2268Met
XM_005246399.1:c.6785C>T XP_005246456.1:p.Thr2262Met
XM_005246401.1:c.6710C>T XP_005246458.1:p.Thr2237Met
XM_005246402.1:c.6710C>T XP_005246459.1:p.Thr2237Met
XM_005246403.1:c.6608C>T XP_005246460.1:p.Thr2203Met
XM_005246404.1:c.6605C>T XP_005246461.1:p.Thr2202Met
XM_005246405.1:c.6608C>T XP_005246462.1:p.Thr2203Met
XM_005246406.1:c.6605C>T XP_005246463.1:p.Thr2202Met
XM_005246407.1:c.6518C>T XP_005246464.1:p.Thr2173Met
XM_005246408.1:c.6515C>T XP_005246465.1:p.Thr2172Met
XM_005246409.1:c.6530C>T XP_005246466.1:p.Thr2177Met
XM_005246410.1:c.6440C>T XP_005246467.1:p.Thr2147Met
XM_005246411.1:c.6248C>T XP_005246468.1:p.Thr2083Met
XM_005246412.1:c.6260C>T XP_005246469.1:p.Thr2087Met
XM_005246414.1:c.6245C>T XP_005246471.1:p.Thr2082Met
XM_005246416.1:c.6167C>T XP_005246473.1:p.Thr2056Met
XM_017003692.1:c.6518C>T XP_016859181.1:p.Thr2173Met
XM_017003695.1:c.6335C>T XP_016859184.1:p.Thr2112Met
XM_024452769.1:c.6803C>T XP_024308537.1:p.Thr2268Met
XM_024452770.1:c.6533C>T XP_024308538.1:p.Thr2178Met