Canonical Allele Identifier: CA392349272

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463189C>T , CM000677.2:g.48463189C>T	GRCh38
NC_000015.9:g.48755386C>T , CM000677.1:g.48755386C>T	GRCh37
NC_000015.8:g.46542678C>T	NCBI36
NG_008805.2:g.187600G>A , LRG_778:g.187600G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5117G>A MANE Select	NP_000129.3:p.Cys1706Tyr
ENST00000316623.10:c.5117G>A MANE Select	ENSP00000325527.5:p.Cys1706Tyr
NM_000138.4:c.5117G>A , LRG_778t1:c.5117G>A	NP_000129.3:p.Cys1706Tyr
ENST00000316623.9:c.5117G>A	ENSP00000325527.5:p.Cys1706Tyr
ENST00000537463.6:c.*880G>A	ENSP00000440294.2:n.*880G>A
ENST00000559133.5:c.424G>A
ENST00000559133.6:c.5117G>A	ENSP00000453958.2:p.Cys1706Tyr
ENST00000674301.1:c.116G>A	ENSP00000501333.1:p.Cys39Tyr
ENST00000674301.2:c.5117G>A	ENSP00000501333.2:p.Cys1706Tyr
ENST00000684448.1:n.3791G>A