Canonical Allele Identifier: CA392325128

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421608C>G , CM000677.2:g.48421608C>G	GRCh38
NC_000015.9:g.48713805C>G , CM000677.1:g.48713805C>G	GRCh37
NC_000015.8:g.46501097C>G	NCBI36
NG_008805.2:g.229181G>C , LRG_778:g.229181G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7649G>C MANE Select	NP_000129.3:p.Cys2550Ser
ENST00000316623.10:c.7649G>C MANE Select	ENSP00000325527.5:p.Cys2550Ser
NM_000138.4:c.7649G>C , LRG_778t1:c.7649G>C	NP_000129.3:p.Cys2550Ser
ENST00000316623.9:c.7649G>C	ENSP00000325527.5:p.Cys2550Ser
ENST00000559133.5:c.3018G>C
ENST00000559133.6:c.*457G>C	ENSP00000453958.2:n.*457G>C
ENST00000674301.1:c.2815G>C	ENSP00000501333.1:n.2815G>C
ENST00000674301.2:c.*1162G>C	ENSP00000501333.2:n.*1162G>C
ENST00000682170.1:n.1830G>C
ENST00000682767.1:n.946G>C