Canonical Allele Identifier: CA2175494656

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432975A= , CM000677.2:g.48432975A=	GRCh38
NC_000015.9:g.48725172A= , CM000677.1:g.48725172A=	GRCh37
NC_000015.8:g.46512464A=	NCBI36
NG_008805.2:g.217814T= , LRG_778:g.217814T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6630T= MANE Select	NP_000129.3:p.Cys2210=
ENST00000316623.10:c.6630T= MANE Select	ENSP00000325527.5:p.Cys2210=
NM_000138.4:c.6630T= , LRG_778t1:c.6630T=	NP_000129.3:p.Cys2210=
ENST00000316623.9:c.6630T=	ENSP00000325527.5:p.Cys2210=
ENST00000537463.6:c.*2393T=	ENSP00000440294.2:n.*2393T=
ENST00000559133.5:c.1937T=
ENST00000559133.6:c.6630T=	ENSP00000453958.2:p.Cys2210=
ENST00000674301.1:c.1734T=	ENSP00000501333.1:n.1734T=
ENST00000674301.2:c.*81T=	ENSP00000501333.2:n.*81T=
ENST00000682170.1:n.239T=