Canonical Allele Identifier: CA2175518207

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467966A= , CM000677.2:g.48467966A=	GRCh38
NC_000015.9:g.48760163A= , CM000677.1:g.48760163A=	GRCh37
NC_000015.8:g.46547455A=	NCBI36
NG_008805.2:g.182823T= , LRG_778:g.182823T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4719T=	ENSP00000453958.2:p.Pro1573=
ENST00000674301.2:c.4719T=	ENSP00000501333.2:p.Pro1573=
ENST00000684448.1:n.3393T=
ENST00000316623.10:c.4719T= MANE Select	ENSP00000325527.5:p.Pro1573=
ENST00000316623.9:c.4719T=	ENSP00000325527.5:p.Pro1573=
ENST00000537463.6:c.*482T=	ENSP00000440294.2:n.*482T=
ENST00000559133.5:c.26T=
NM_000138.4:c.4719T= , LRG_778t1:c.4719T=	NP_000129.3:p.Pro1573=
NM_000138.5:c.4719T= MANE Select	NP_000129.3:p.Pro1573=