Canonical Allele Identifier: CA9150583

Gene: FBN3 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8066098G>A , CM000681.2:g.8066098G>A	GRCh38
NC_000019.9:g.8130982G>A , CM000681.1:g.8130982G>A	GRCh37
NC_000019.8:g.8036982G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032447.5:c.8251C>T (FBN3) MANE Select	NP_115823.3:p.Arg2751Cys
ENST00000600128.6:c.8251C>T (FBN3) MANE Select	ENSP00000470498.1:p.Arg2751Cys
NM_001321431.1:c.8251C>T (FBN3)	NP_001308360.1:p.Arg2751Cys
NM_001321431.2:c.8251C>T (FBN3)	NP_001308360.1:p.Arg2751Cys
NM_032447.3:c.8251C>T (FBN3)	NP_115823.3:p.Arg2751Cys
NM_032447.4:c.8251C>T (FBN3)	NP_115823.3:p.Arg2751Cys
ENST00000270509.6:c.8251C>T (FBN3)	ENSP00000270509.2:p.Arg2751Cys
ENST00000351593.9:c.-19-74264C>T (ELAVL1)	ENSP00000264073.6:n.-19-74264C>T
ENST00000600128.5:c.8251C>T (FBN3)	ENSP00000470498.1:p.Arg2751Cys
ENST00000601739.5:c.8251C>T (FBN3)	ENSP00000472324.1:p.Arg2751Cys
ENST00000651877.1:c.8377C>T (FBN3)	ENSP00000498507.1:p.Arg2793Cys
XM_011528373.1:c.8251C>T (FBN3)	XP_011526675.1:p.Arg2751Cys
XM_017027372.1:c.8251C>T (FBN3)	XP_016882861.1:p.Arg2751Cys
XM_017027373.1:c.8191C>T (FBN3)	XP_016882862.1:p.Arg2731Cys
XM_017027374.2:c.8155C>T (FBN3)	XP_016882863.1:p.Arg2719Cys
XM_017027375.2:c.8128C>T (FBN3)	XP_016882864.1:p.Arg2710Cys
XM_017027376.1:c.8122C>T (FBN3)	XP_016882865.1:p.Arg2708Cys
XM_017027377.2:c.5668C>T (FBN3)	XP_016882866.1:p.Arg1890Cys
XM_017027378.2:c.4609C>T (FBN3)	XP_016882867.1:p.Arg1537Cys
XM_017027379.1:c.8377C>T (FBN3)	XP_016882868.1:p.Arg2793Cys