Canonical Allele Identifier: CA2175489318

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415523G= , CM000677.2:g.48415523G=	GRCh38
NC_000015.9:g.48707720G= , CM000677.1:g.48707720G=	GRCh37
NC_000015.8:g.46495012G=	NCBI36
NG_008805.2:g.235266C= , LRG_778:g.235266C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+13C=	ENSP00000453958.2:n.*859+13C=
ENST00000674301.2:c.*1564+13C=	ENSP00000501333.2:n.*1564+13C=
ENST00000682158.1:n.1432+13C=
ENST00000682170.1:n.2232+13C=
ENST00000682767.1:n.1348+13C=
ENST00000316623.10:c.8051+13C= MANE Select	ENSP00000325527.5:n.8051+13C=
ENST00000674301.1:c.3217+13C=	ENSP00000501333.1:n.3217+13C=
ENST00000316623.9:c.8051+13C=	ENSP00000325527.5:n.8051+13C=
ENST00000559133.5:c.3420+13C=
ENST00000561429.1:n.306+13C=
NM_000138.4:c.8051+13C= , LRG_778t1:c.8051+13C=	NP_000129.3:n.8051+13C=
NM_000138.5:c.8051+13C= MANE Select	NP_000129.3:n.8051+13C=