Canonical Allele Identifier: CA2175518414

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468430T= , CM000677.2:g.48468430T=	GRCh38
NC_000015.9:g.48760627T= , CM000677.1:g.48760627T=	GRCh37
NC_000015.8:g.46547919T=	NCBI36
NG_008805.2:g.182359A= , LRG_778:g.182359A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4564A=	ENSP00000453958.2:p.Thr1522=
ENST00000674301.2:c.4564A=	ENSP00000501333.2:p.Thr1522=
ENST00000684448.1:n.3238A=
ENST00000316623.10:c.4564A= MANE Select	ENSP00000325527.5:p.Thr1522=
ENST00000316623.9:c.4564A=	ENSP00000325527.5:p.Thr1522=
ENST00000537463.6:c.*327A=	ENSP00000440294.2:n.*327A=
NM_000138.4:c.4564A= , LRG_778t1:c.4564A=	NP_000129.3:p.Thr1522=
NM_000138.5:c.4564A= MANE Select	NP_000129.3:p.Thr1522=