Canonical Allele Identifier: CA392345998

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456682A>G , CM000677.2:g.48456682A>G	GRCh38
NC_000015.9:g.48748879A>G , CM000677.1:g.48748879A>G	GRCh37
NC_000015.8:g.46536171A>G	NCBI36
NG_008805.2:g.194107T>C , LRG_778:g.194107T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5377T>C MANE Select	NP_000129.3:p.Cys1793Arg
ENST00000316623.10:c.5377T>C MANE Select	ENSP00000325527.5:p.Cys1793Arg
NM_000138.4:c.5377T>C , LRG_778t1:c.5377T>C	NP_000129.3:p.Cys1793Arg
ENST00000316623.9:c.5377T>C	ENSP00000325527.5:p.Cys1793Arg
ENST00000537463.6:c.*1140T>C	ENSP00000440294.2:n.*1140T>C
ENST00000559133.5:c.684T>C
ENST00000559133.6:c.5377T>C	ENSP00000453958.2:p.Cys1793Arg
ENST00000674301.1:c.376T>C	ENSP00000501333.1:p.Cys126Arg
ENST00000674301.2:c.5377T>C	ENSP00000501333.2:p.Cys1793Arg
ENST00000684448.1:n.4051T>C