Canonical Allele Identifier: CA2175495203

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446772T= , CM000677.2:g.48446772T=	GRCh38
NC_000015.9:g.48738969T= , CM000677.1:g.48738969T=	GRCh37
NC_000015.8:g.46526261T=	NCBI36
NG_008805.2:g.204017A= , LRG_778:g.204017A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5722A=	ENSP00000453958.2:p.Thr1908=
ENST00000674301.2:c.5722A=	ENSP00000501333.2:p.Thr1908=
ENST00000684448.1:n.4396A=
ENST00000316623.10:c.5722A= MANE Select	ENSP00000325527.5:p.Thr1908=
ENST00000674301.1:c.721A=	ENSP00000501333.1:p.Thr241=
ENST00000316623.9:c.5722A=	ENSP00000325527.5:p.Thr1908=
ENST00000537463.6:c.*1485A=	ENSP00000440294.2:n.*1485A=
ENST00000559133.5:c.1029A=
NM_000138.4:c.5722A= , LRG_778t1:c.5722A=	NP_000129.3:p.Thr1908=
NM_000138.5:c.5722A= MANE Select	NP_000129.3:p.Thr1908=