Canonical Allele Identifier: CA9150592

Gene: FBN3 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8066125C>T , CM000681.2:g.8066125C>T	GRCh38
NC_000019.9:g.8131009C>T , CM000681.1:g.8131009C>T	GRCh37
NC_000019.8:g.8037009C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600128.6:c.8224G>A (FBN3) MANE Select	ENSP00000470498.1:p.Val2742Ile
ENST00000651877.1:c.8350G>A (FBN3)	ENSP00000498507.1:p.Val2784Ile
ENST00000270509.6:c.8224G>A (FBN3)	ENSP00000270509.2:p.Val2742Ile
ENST00000351593.9:c.-19-74291G>A (ELAVL1)	ENSP00000264073.6:n.-19-74291G>A
ENST00000600128.5:c.8224G>A (FBN3)	ENSP00000470498.1:p.Val2742Ile
ENST00000601739.5:c.8224G>A (FBN3)	ENSP00000472324.1:p.Val2742Ile
NM_032447.3:c.8224G>A (FBN3)	NP_115823.3:p.Val2742Ile
XM_011528373.1:c.8224G>A (FBN3)	XP_011526675.1:p.Val2742Ile
NM_001321431.1:c.8224G>A (FBN3)	NP_001308360.1:p.Val2742Ile
NM_032447.4:c.8224G>A (FBN3)	NP_115823.3:p.Val2742Ile
XM_017027372.1:c.8224G>A (FBN3)	XP_016882861.1:p.Val2742Ile
XM_017027373.1:c.8164G>A (FBN3)	XP_016882862.1:p.Val2722Ile
XM_017027374.2:c.8128G>A (FBN3)	XP_016882863.1:p.Val2710Ile
XM_017027375.2:c.8101G>A (FBN3)	XP_016882864.1:p.Val2701Ile
XM_017027376.1:c.8095G>A (FBN3)	XP_016882865.1:p.Val2699Ile
XM_017027377.2:c.5641G>A (FBN3)	XP_016882866.1:p.Val1881Ile
XM_017027378.2:c.4582G>A (FBN3)	XP_016882867.1:p.Val1528Ile
XM_017027379.1:c.8350G>A (FBN3)	XP_016882868.1:p.Val2784Ile
NM_032447.5:c.8224G>A (FBN3) MANE Select	NP_115823.3:p.Val2742Ile
NM_001321431.2:c.8224G>A (FBN3)	NP_001308360.1:p.Val2742Ile