Canonical Allele Identifier: CA392344147

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452609C>T , CM000677.2:g.48452609C>T	GRCh38
NC_000015.9:g.48744806C>T , CM000677.1:g.48744806C>T	GRCh37
NC_000015.8:g.46532098C>T	NCBI36
NG_008805.2:g.198180G>A , LRG_778:g.198180G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5498G>A MANE Select	NP_000129.3:p.Cys1833Tyr
ENST00000316623.10:c.5498G>A MANE Select	ENSP00000325527.5:p.Cys1833Tyr
NM_000138.4:c.5498G>A , LRG_778t1:c.5498G>A	NP_000129.3:p.Cys1833Tyr
ENST00000316623.9:c.5498G>A	ENSP00000325527.5:p.Cys1833Tyr
ENST00000537463.6:c.*1261G>A	ENSP00000440294.2:n.*1261G>A
ENST00000559133.5:c.805G>A
ENST00000559133.6:c.5498G>A	ENSP00000453958.2:p.Cys1833Tyr
ENST00000674301.1:c.497G>A	ENSP00000501333.1:p.Cys166Tyr
ENST00000674301.2:c.5498G>A	ENSP00000501333.2:p.Cys1833Tyr
ENST00000684448.1:n.4172G>A