Canonical Allele Identifier: CA9150621
Community Standard Title: NM_032447.5(FBN3):c.8156G>T (p.Arg2719Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8066193C>A , CM000681.2:g.8066193C>A GRCh38
NC_000019.9:g.8131077C>A , CM000681.1:g.8131077C>A GRCh37
NC_000019.8:g.8037077C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032447.5:c.8156G>T (FBN3) MANE Select NP_115823.3:p.Arg2719Leu
ENST00000600128.6:c.8156G>T (FBN3) MANE Select ENSP00000470498.1:p.Arg2719Leu
NM_001321431.1:c.8156G>T (FBN3) NP_001308360.1:p.Arg2719Leu
NM_001321431.2:c.8156G>T (FBN3) NP_001308360.1:p.Arg2719Leu
NM_032447.3:c.8156G>T (FBN3) NP_115823.3:p.Arg2719Leu
NM_032447.4:c.8156G>T (FBN3) NP_115823.3:p.Arg2719Leu
ENST00000270509.6:c.8156G>T (FBN3) ENSP00000270509.2:p.Arg2719Leu
ENST00000351593.9:c.-19-74359G>T (ELAVL1) ENSP00000264073.6:n.-19-74359G>T
ENST00000600128.5:c.8156G>T (FBN3) ENSP00000470498.1:p.Arg2719Leu
ENST00000601739.5:c.8156G>T (FBN3) ENSP00000472324.1:p.Arg2719Leu
ENST00000651877.1:c.8282G>T (FBN3) ENSP00000498507.1:p.Arg2761Leu
XM_011528373.1:c.8156G>T (FBN3) XP_011526675.1:p.Arg2719Leu
XM_017027372.1:c.8156G>T (FBN3) XP_016882861.1:p.Arg2719Leu
XM_017027373.1:c.8096G>T (FBN3) XP_016882862.1:p.Arg2699Leu
XM_017027374.2:c.8060G>T (FBN3) XP_016882863.1:p.Arg2687Leu
XM_017027375.2:c.8033G>T (FBN3) XP_016882864.1:p.Arg2678Leu
XM_017027376.1:c.8027G>T (FBN3) XP_016882865.1:p.Arg2676Leu
XM_017027377.2:c.5573G>T (FBN3) XP_016882866.1:p.Arg1858Leu
XM_017027378.2:c.4514G>T (FBN3) XP_016882867.1:p.Arg1505Leu
XM_017027379.1:c.8282G>T (FBN3) XP_016882868.1:p.Arg2761Leu