Canonical Allele Identifier: CA2175492775

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445472G= , CM000677.2:g.48445472G=	GRCh38
NC_000015.9:g.48737669G= , CM000677.1:g.48737669G=	GRCh37
NC_000015.8:g.46524961G=	NCBI36
NG_008805.2:g.205317C= , LRG_778:g.205317C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5821C=	ENSP00000453958.2:p.Leu1941=
ENST00000674301.2:c.5821C=	ENSP00000501333.2:p.Leu1941=
ENST00000684448.1:n.4495C=
ENST00000316623.10:c.5821C= MANE Select	ENSP00000325527.5:p.Leu1941=
ENST00000674301.1:c.820C=	ENSP00000501333.1:p.Leu274=
ENST00000316623.9:c.5821C=	ENSP00000325527.5:p.Leu1941=
ENST00000537463.6:c.*1584C=	ENSP00000440294.2:n.*1584C=
ENST00000559133.5:c.1128C=
NM_000138.4:c.5821C= , LRG_778t1:c.5821C=	NP_000129.3:p.Leu1941=
NM_000138.5:c.5821C= MANE Select	NP_000129.3:p.Leu1941=