Canonical Allele Identifier: CA2175528150

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48496134T= , CM000677.2:g.48496134T=	GRCh38
NC_000015.9:g.48788331T= , CM000677.1:g.48788331T=	GRCh37
NC_000015.8:g.46575623T=	NCBI36
NG_008805.2:g.154655A= , LRG_778:g.154655A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2385A=	ENSP00000453958.2:p.Gly795=
ENST00000674301.2:c.2385A=	ENSP00000501333.2:p.Gly795=
ENST00000684448.1:n.1059A=
ENST00000316623.10:c.2385A= MANE Select	ENSP00000325527.5:p.Gly795=
ENST00000316623.9:c.2385A=	ENSP00000325527.5:p.Gly795=
ENST00000537463.6:c.637-21484A=	ENSP00000440294.2:n.637-21484A=
NM_000138.4:c.2385A= , LRG_778t1:c.2385A=	NP_000129.3:p.Gly795=
NM_000138.5:c.2385A= MANE Select	NP_000129.3:p.Gly795=