Canonical Allele Identifier: CA9150795

Gene: FBN3 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8075124C>T , CM000681.2:g.8075124C>T	GRCh38
NC_000019.9:g.8140008C>T , CM000681.1:g.8140008C>T	GRCh37
NC_000019.8:g.8046008C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600128.6:c.7649G>A (FBN3) MANE Select	ENSP00000470498.1:p.Arg2550His
ENST00000651877.1:c.7775G>A (FBN3)	ENSP00000498507.1:p.Arg2592His
ENST00000270509.6:c.7649G>A (FBN3)	ENSP00000270509.2:p.Arg2550His
ENST00000351593.9:c.-20+74180G>A (ELAVL1)	ENSP00000264073.6:n.-20+74180G>A
ENST00000595036.1:n.121G>A (FBN3)
ENST00000600128.5:c.7649G>A (FBN3)	ENSP00000470498.1:p.Arg2550His
ENST00000601739.5:c.7649G>A (FBN3)	ENSP00000472324.1:p.Arg2550His
NM_032447.3:c.7649G>A (FBN3)	NP_115823.3:p.Arg2550His
XM_011528373.1:c.7649G>A (FBN3)	XP_011526675.1:p.Arg2550His
NM_001321431.1:c.7649G>A (FBN3)	NP_001308360.1:p.Arg2550His
NM_032447.4:c.7649G>A (FBN3)	NP_115823.3:p.Arg2550His
XM_017027372.1:c.7649G>A (FBN3)	XP_016882861.1:p.Arg2550His
XM_017027373.1:c.7589G>A (FBN3)	XP_016882862.1:p.Arg2530His
XM_017027374.2:c.7553G>A (FBN3)	XP_016882863.1:p.Arg2518His
XM_017027375.2:c.7526G>A (FBN3)	XP_016882864.1:p.Arg2509His
XM_017027376.1:c.7520G>A (FBN3)	XP_016882865.1:p.Arg2507His
XM_017027377.2:c.5066G>A (FBN3)	XP_016882866.1:p.Arg1689His
XM_017027378.2:c.4007G>A (FBN3)	XP_016882867.1:p.Arg1336His
XM_017027379.1:c.7775G>A (FBN3)	XP_016882868.1:p.Arg2592His
NM_032447.5:c.7649G>A (FBN3) MANE Select	NP_115823.3:p.Arg2550His
NM_001321431.2:c.7649G>A (FBN3)	NP_001308360.1:p.Arg2550His