Canonical Allele Identifier: CA2175489309

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415496G= , CM000677.2:g.48415496G=	GRCh38
NC_000015.9:g.48707693G= , CM000677.1:g.48707693G=	GRCh37
NC_000015.8:g.46494985G=	NCBI36
NG_008805.2:g.235293C= , LRG_778:g.235293C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*859+40C=	ENSP00000453958.2:n.*859+40C=
ENST00000674301.2:c.*1564+40C=	ENSP00000501333.2:n.*1564+40C=
ENST00000682158.1:n.1432+40C=
ENST00000682170.1:n.2232+40C=
ENST00000682767.1:n.1348+40C=
ENST00000316623.10:c.8051+40C= MANE Select	ENSP00000325527.5:n.8051+40C=
ENST00000674301.1:c.3217+40C=	ENSP00000501333.1:n.3217+40C=
ENST00000316623.9:c.8051+40C=	ENSP00000325527.5:n.8051+40C=
ENST00000559133.5:c.3420+40C=
ENST00000561429.1:n.306+40C=
NM_000138.4:c.8051+40C= , LRG_778t1:c.8051+40C=	NP_000129.3:n.8051+40C=
NM_000138.5:c.8051+40C= MANE Select	NP_000129.3:n.8051+40C=