Canonical Allele Identifier: CA9151927

Gene: FBN3 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8106159A>G , CM000681.2:g.8106159A>G	GRCh38
NC_000019.9:g.8171043A>G , CM000681.1:g.8171043A>G	GRCh37
NC_000019.8:g.8077043A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032447.5:c.4762T>C (FBN3) MANE Select	NP_115823.3:p.Cys1588Arg
ENST00000600128.6:c.4762T>C (FBN3) MANE Select	ENSP00000470498.1:p.Cys1588Arg
NM_001321431.1:c.4762T>C (FBN3)	NP_001308360.1:p.Cys1588Arg
NM_001321431.2:c.4762T>C (FBN3)	NP_001308360.1:p.Cys1588Arg
NM_032447.3:c.4762T>C (FBN3)	NP_115823.3:p.Cys1588Arg
NM_032447.4:c.4762T>C (FBN3)	NP_115823.3:p.Cys1588Arg
ENST00000270509.6:c.4762T>C (FBN3)	ENSP00000270509.2:p.Cys1588Arg
ENST00000351593.9:c.-20+43145T>C (ELAVL1)	ENSP00000264073.6:n.-20+43145T>C
ENST00000600128.5:c.4762T>C (FBN3)	ENSP00000470498.1:p.Cys1588Arg
ENST00000601739.5:c.4762T>C (FBN3)	ENSP00000472324.1:p.Cys1588Arg
ENST00000651877.1:c.4888T>C (FBN3)	ENSP00000498507.1:p.Cys1630Arg
XM_011528373.1:c.4762T>C (FBN3)	XP_011526675.1:p.Cys1588Arg
XM_017027372.1:c.4762T>C (FBN3)	XP_016882861.1:p.Cys1588Arg
XM_017027373.1:c.4762T>C (FBN3)	XP_016882862.1:p.Cys1588Arg
XM_017027374.2:c.4666T>C (FBN3)	XP_016882863.1:p.Cys1556Arg
XM_017027375.2:c.4639T>C (FBN3)	XP_016882864.1:p.Cys1547Arg
XM_017027376.1:c.4762T>C (FBN3)	XP_016882865.1:p.Cys1588Arg
XM_017027377.2:c.2179T>C (FBN3)	XP_016882866.1:p.Cys727Arg
XM_017027378.2:c.1120T>C (FBN3)	XP_016882867.1:p.Cys374Arg
XM_017027379.1:c.4888T>C (FBN3)	XP_016882868.1:p.Cys1630Arg