Canonical Allele Identifier: CA9150571

Gene: FBN3 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8066049C>T , CM000681.2:g.8066049C>T	GRCh38
NC_000019.9:g.8130933C>T , CM000681.1:g.8130933C>T	GRCh37
NC_000019.8:g.8036933C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032447.5:c.8300G>A (FBN3) MANE Select	NP_115823.3:p.Arg2767Gln
ENST00000600128.6:c.8300G>A (FBN3) MANE Select	ENSP00000470498.1:p.Arg2767Gln
NM_001321431.1:c.8300G>A (FBN3)	NP_001308360.1:p.Arg2767Gln
NM_001321431.2:c.8300G>A (FBN3)	NP_001308360.1:p.Arg2767Gln
NM_032447.3:c.8300G>A (FBN3)	NP_115823.3:p.Arg2767Gln
NM_032447.4:c.8300G>A (FBN3)	NP_115823.3:p.Arg2767Gln
ENST00000270509.6:c.8300G>A (FBN3)	ENSP00000270509.2:p.Arg2767Gln
ENST00000351593.9:c.-19-74215G>A (ELAVL1)	ENSP00000264073.6:n.-19-74215G>A
ENST00000600128.5:c.8300G>A (FBN3)	ENSP00000470498.1:p.Arg2767Gln
ENST00000601739.5:c.8300G>A (FBN3)	ENSP00000472324.1:p.Arg2767Gln
ENST00000651877.1:c.8426G>A (FBN3)	ENSP00000498507.1:p.Arg2809Gln
XM_011528373.1:c.8300G>A (FBN3)	XP_011526675.1:p.Arg2767Gln
XM_017027372.1:c.8300G>A (FBN3)	XP_016882861.1:p.Arg2767Gln
XM_017027373.1:c.8240G>A (FBN3)	XP_016882862.1:p.Arg2747Gln
XM_017027374.2:c.8204G>A (FBN3)	XP_016882863.1:p.Arg2735Gln
XM_017027375.2:c.8177G>A (FBN3)	XP_016882864.1:p.Arg2726Gln
XM_017027376.1:c.8171G>A (FBN3)	XP_016882865.1:p.Arg2724Gln
XM_017027377.2:c.5717G>A (FBN3)	XP_016882866.1:p.Arg1906Gln
XM_017027378.2:c.4658G>A (FBN3)	XP_016882867.1:p.Arg1553Gln
XM_017027379.1:c.8426G>A (FBN3)	XP_016882868.1:p.Arg2809Gln