Canonical Allele Identifier: CA2175516349

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488462G= , CM000677.2:g.48488462G=	GRCh38
NC_000015.9:g.48780659G= , CM000677.1:g.48780659G=	GRCh37
NC_000015.8:g.46567951G=	NCBI36
NG_008805.2:g.162327C= , LRG_778:g.162327C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3114C=	ENSP00000453958.2:p.Leu1038=
ENST00000674301.2:c.3114C=	ENSP00000501333.2:p.Leu1038=
ENST00000684448.1:n.1788C=
ENST00000316623.10:c.3114C= MANE Select	ENSP00000325527.5:p.Leu1038=
ENST00000316623.9:c.3114C=	ENSP00000325527.5:p.Leu1038=
ENST00000537463.6:c.637-13812C=	ENSP00000440294.2:n.637-13812C=
NM_000138.4:c.3114C= , LRG_778t1:c.3114C=	NP_000129.3:p.Leu1038=
NM_000138.5:c.3114C= MANE Select	NP_000129.3:p.Leu1038=