Canonical Allele Identifier: CA2175484997

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409639A= , CM000677.2:g.48409639A=	GRCh38
NC_000015.9:g.48701836A= , CM000677.1:g.48701836A=	GRCh37
NC_000015.8:g.46489128A=	NCBI36
NG_008805.2:g.241150T= , LRG_778:g.241150T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4148T=
ENST00000682767.1:n.3264T=
ENST00000316623.10:c.*1351T= MANE Select	ENSP00000325527.5:n.*1351T=
ENST00000316623.9:c.*1351T=	ENSP00000325527.5:n.*1351T=
NM_000138.4:c.*1351T= , LRG_778t1:c.*1351T=	NP_000129.3:n.*1351T=
NM_000138.5:c.*1351T= MANE Select	NP_000129.3:n.*1351T=