Canonical Allele Identifier: CA392336851

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437379G>A , CM000677.2:g.48437379G>A	GRCh38
NC_000015.9:g.48729576G>A , CM000677.1:g.48729576G>A	GRCh37
NC_000015.8:g.46516868G>A	NCBI36
NG_008805.2:g.213410C>T , LRG_778:g.213410C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6322C>T MANE Select	NP_000129.3:p.Arg2108Cys
ENST00000316623.10:c.6322C>T MANE Select	ENSP00000325527.5:p.Arg2108Cys
NM_000138.4:c.6322C>T , LRG_778t1:c.6322C>T	NP_000129.3:p.Arg2108Cys
ENST00000316623.9:c.6322C>T	ENSP00000325527.5:p.Arg2108Cys
ENST00000537463.6:c.*2085C>T	ENSP00000440294.2:n.*2085C>T
ENST00000559133.5:c.1629C>T
ENST00000559133.6:c.6322C>T	ENSP00000453958.2:p.Arg2108Cys
ENST00000674301.1:c.1321C>T	ENSP00000501333.1:p.Arg441Cys
ENST00000674301.2:c.6322C>T	ENSP00000501333.2:p.Arg2108Cys