Canonical Allele Identifier: CA2175489333

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415556A= , CM000677.2:g.48415556A=	GRCh38
NC_000015.9:g.48707753A= , CM000677.1:g.48707753A=	GRCh37
NC_000015.8:g.46495045A=	NCBI36
NG_008805.2:g.235233T= , LRG_778:g.235233T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*839T=	ENSP00000453958.2:n.*839T=
ENST00000674301.2:c.*1544T=	ENSP00000501333.2:n.*1544T=
ENST00000682158.1:n.1412T=
ENST00000682170.1:n.2212T=
ENST00000682767.1:n.1328T=
ENST00000316623.10:c.8031T= MANE Select	ENSP00000325527.5:p.Gly2677=
ENST00000674301.1:c.3197T=	ENSP00000501333.1:n.3197T=
ENST00000316623.9:c.8031T=	ENSP00000325527.5:p.Gly2677=
ENST00000559133.5:c.3400T=
ENST00000561429.1:n.286T=
NM_000138.4:c.8031T= , LRG_778t1:c.8031T=	NP_000129.3:p.Gly2677=
NM_000138.5:c.8031T= MANE Select	NP_000129.3:p.Gly2677=