Canonical Allele Identifier: CA9150602

Gene: FBN3 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8066150T>C , CM000681.2:g.8066150T>C	GRCh38
NC_000019.9:g.8131034T>C , CM000681.1:g.8131034T>C	GRCh37
NC_000019.8:g.8037034T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032447.5:c.8199A>G (FBN3) MANE Select	NP_115823.3:p.Leu2733=
ENST00000600128.6:c.8199A>G (FBN3) MANE Select	ENSP00000470498.1:p.Leu2733=
NM_001321431.1:c.8199A>G (FBN3)	NP_001308360.1:p.Leu2733=
NM_001321431.2:c.8199A>G (FBN3)	NP_001308360.1:p.Leu2733=
NM_032447.3:c.8199A>G (FBN3)	NP_115823.3:p.Leu2733=
NM_032447.4:c.8199A>G (FBN3)	NP_115823.3:p.Leu2733=
ENST00000270509.6:c.8199A>G (FBN3)	ENSP00000270509.2:p.Leu2733=
ENST00000351593.9:c.-19-74316A>G (ELAVL1)	ENSP00000264073.6:n.-19-74316A>G
ENST00000600128.5:c.8199A>G (FBN3)	ENSP00000470498.1:p.Leu2733=
ENST00000601739.5:c.8199A>G (FBN3)	ENSP00000472324.1:p.Leu2733=
ENST00000651877.1:c.8325A>G (FBN3)	ENSP00000498507.1:p.Leu2775=
XM_011528373.1:c.8199A>G (FBN3)	XP_011526675.1:p.Leu2733=
XM_017027372.1:c.8199A>G (FBN3)	XP_016882861.1:p.Leu2733=
XM_017027373.1:c.8139A>G (FBN3)	XP_016882862.1:p.Leu2713=
XM_017027374.2:c.8103A>G (FBN3)	XP_016882863.1:p.Leu2701=
XM_017027375.2:c.8076A>G (FBN3)	XP_016882864.1:p.Leu2692=
XM_017027376.1:c.8070A>G (FBN3)	XP_016882865.1:p.Leu2690=
XM_017027377.2:c.5616A>G (FBN3)	XP_016882866.1:p.Leu1872=
XM_017027378.2:c.4557A>G (FBN3)	XP_016882867.1:p.Leu1519=
XM_017027379.1:c.8325A>G (FBN3)	XP_016882868.1:p.Leu2775=