Canonical Allele Identifier: CA2175529221

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508583T= , CM000677.2:g.48508583T=	GRCh38
NC_000015.9:g.48800780T= , CM000677.1:g.48800780T=	GRCh37
NC_000015.8:g.46588072T=	NCBI36
NG_008805.2:g.142206A= , LRG_778:g.142206A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1836A=	ENSP00000453958.2:p.Lys612=
ENST00000674301.2:c.1836A=	ENSP00000501333.2:p.Lys612=
ENST00000684448.1:n.510A=
ENST00000316623.10:c.1836A= MANE Select	ENSP00000325527.5:p.Lys612=
ENST00000316623.9:c.1836A=	ENSP00000325527.5:p.Lys612=
ENST00000537463.6:c.636+29128A=	ENSP00000440294.2:n.636+29128A=
NM_000138.4:c.1836A= , LRG_778t1:c.1836A=	NP_000129.3:p.Lys612=
NM_000138.5:c.1836A= MANE Select	NP_000129.3:p.Lys612=