Canonical Allele Identifier: CA2175509492

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456703C= , CM000677.2:g.48456703C=	GRCh38
NC_000015.9:g.48748900C= , CM000677.1:g.48748900C=	GRCh37
NC_000015.8:g.46536192C=	NCBI36
NG_008805.2:g.194086G= , LRG_778:g.194086G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5356G=	ENSP00000453958.2:p.Val1786=
ENST00000674301.2:c.5356G=	ENSP00000501333.2:p.Val1786=
ENST00000684448.1:n.4030G=
ENST00000316623.10:c.5356G= MANE Select	ENSP00000325527.5:p.Val1786=
ENST00000674301.1:c.355G=	ENSP00000501333.1:p.Val119=
ENST00000316623.9:c.5356G=	ENSP00000325527.5:p.Val1786=
ENST00000537463.6:c.*1119G=	ENSP00000440294.2:n.*1119G=
ENST00000559133.5:c.663G=
NM_000138.4:c.5356G= , LRG_778t1:c.5356G=	NP_000129.3:p.Val1786=
NM_000138.5:c.5356G= MANE Select	NP_000129.3:p.Val1786=