Canonical Allele Identifier: CA2175492654

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445459C= , CM000677.2:g.48445459C=	GRCh38
NC_000015.9:g.48737656C= , CM000677.1:g.48737656C=	GRCh37
NC_000015.8:g.46524948C=	NCBI36
NG_008805.2:g.205330G= , LRG_778:g.205330G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5834G=	ENSP00000453958.2:p.Gly1945=
ENST00000674301.2:c.5834G=	ENSP00000501333.2:p.Gly1945=
ENST00000684448.1:n.4508G=
ENST00000316623.10:c.5834G= MANE Select	ENSP00000325527.5:p.Gly1945=
ENST00000674301.1:c.833G=	ENSP00000501333.1:p.Gly278=
ENST00000316623.9:c.5834G=	ENSP00000325527.5:p.Gly1945=
ENST00000537463.6:c.*1597G=	ENSP00000440294.2:n.*1597G=
ENST00000559133.5:c.1141G=
NM_000138.4:c.5834G= , LRG_778t1:c.5834G=	NP_000129.3:p.Gly1945=
NM_000138.5:c.5834G= MANE Select	NP_000129.3:p.Gly1945=