Canonical Allele Identifier: CA2175492425

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445408T= , CM000677.2:g.48445408T=	GRCh38
NC_000015.9:g.48737605T= , CM000677.1:g.48737605T=	GRCh37
NC_000015.8:g.46524897T=	NCBI36
NG_008805.2:g.205381A= , LRG_778:g.205381A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5885A=	ENSP00000453958.2:p.Tyr1962=
ENST00000674301.2:c.5885A=	ENSP00000501333.2:p.Tyr1962=
ENST00000684448.1:n.4559A=
ENST00000316623.10:c.5885A= MANE Select	ENSP00000325527.5:p.Tyr1962=
ENST00000674301.1:c.884A=	ENSP00000501333.1:p.Tyr295=
ENST00000316623.9:c.5885A=	ENSP00000325527.5:p.Tyr1962=
ENST00000537463.6:c.*1648A=	ENSP00000440294.2:n.*1648A=
ENST00000559133.5:c.1192A=
ENST00000560820.1:n.5A=
NM_000138.4:c.5885A= , LRG_778t1:c.5885A=	NP_000129.3:p.Tyr1962=
NM_000138.5:c.5885A= MANE Select	NP_000129.3:p.Tyr1962=