Canonical Allele Identifier: CA9150599
Community Standard Title: NM_032447.5(FBN3):c.8212C>T (p.Arg2738Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8066137G>A , CM000681.2:g.8066137G>A GRCh38
NC_000019.9:g.8131021G>A , CM000681.1:g.8131021G>A GRCh37
NC_000019.8:g.8037021G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032447.5:c.8212C>T (FBN3) MANE Select NP_115823.3:p.Arg2738Cys
ENST00000600128.6:c.8212C>T (FBN3) MANE Select ENSP00000470498.1:p.Arg2738Cys
NM_001321431.1:c.8212C>T (FBN3) NP_001308360.1:p.Arg2738Cys
NM_001321431.2:c.8212C>T (FBN3) NP_001308360.1:p.Arg2738Cys
NM_032447.3:c.8212C>T (FBN3) NP_115823.3:p.Arg2738Cys
NM_032447.4:c.8212C>T (FBN3) NP_115823.3:p.Arg2738Cys
ENST00000270509.6:c.8212C>T (FBN3) ENSP00000270509.2:p.Arg2738Cys
ENST00000351593.9:c.-19-74303C>T (ELAVL1) ENSP00000264073.6:n.-19-74303C>T
ENST00000600128.5:c.8212C>T (FBN3) ENSP00000470498.1:p.Arg2738Cys
ENST00000601739.5:c.8212C>T (FBN3) ENSP00000472324.1:p.Arg2738Cys
ENST00000651877.1:c.8338C>T (FBN3) ENSP00000498507.1:p.Arg2780Cys
XM_011528373.1:c.8212C>T (FBN3) XP_011526675.1:p.Arg2738Cys
XM_017027372.1:c.8212C>T (FBN3) XP_016882861.1:p.Arg2738Cys
XM_017027373.1:c.8152C>T (FBN3) XP_016882862.1:p.Arg2718Cys
XM_017027374.2:c.8116C>T (FBN3) XP_016882863.1:p.Arg2706Cys
XM_017027375.2:c.8089C>T (FBN3) XP_016882864.1:p.Arg2697Cys
XM_017027376.1:c.8083C>T (FBN3) XP_016882865.1:p.Arg2695Cys
XM_017027377.2:c.5629C>T (FBN3) XP_016882866.1:p.Arg1877Cys
XM_017027378.2:c.4570C>T (FBN3) XP_016882867.1:p.Arg1524Cys
XM_017027379.1:c.8338C>T (FBN3) XP_016882868.1:p.Arg2780Cys