Canonical Allele Identifier: CA392446560

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48600196A>T , CM000677.2:g.48600196A>T	GRCh38
NC_000015.9:g.48892393A>T , CM000677.1:g.48892393A>T	GRCh37
NC_000015.8:g.46679685A>T	NCBI36
NG_008805.2:g.50593T>A , LRG_778:g.50593T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.385T>A MANE Select	NP_000129.3:p.Cys129Ser
ENST00000316623.10:c.385T>A MANE Select	ENSP00000325527.5:p.Cys129Ser
NM_000138.4:c.385T>A , LRG_778t1:c.385T>A	NP_000129.3:p.Cys129Ser
ENST00000316623.9:c.385T>A	ENSP00000325527.5:p.Cys129Ser
ENST00000537463.6:c.385T>A	ENSP00000440294.2:p.Cys129Ser
ENST00000559133.6:c.385T>A	ENSP00000453958.2:p.Cys129Ser
ENST00000674301.2:c.385T>A	ENSP00000501333.2:p.Cys129Ser