Canonical Allele Identifier: CA392341657

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448773C>A , CM000677.2:g.48448773C>A	GRCh38
NC_000015.9:g.48740970C>A , CM000677.1:g.48740970C>A	GRCh37
NC_000015.8:g.46528262C>A	NCBI36
NG_008805.2:g.202016G>T , LRG_778:g.202016G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5666G>T MANE Select	NP_000129.3:p.Cys1889Phe
ENST00000316623.10:c.5666G>T MANE Select	ENSP00000325527.5:p.Cys1889Phe
NM_000138.4:c.5666G>T , LRG_778t1:c.5666G>T	NP_000129.3:p.Cys1889Phe
ENST00000316623.9:c.5666G>T	ENSP00000325527.5:p.Cys1889Phe
ENST00000537463.6:c.*1429G>T	ENSP00000440294.2:n.*1429G>T
ENST00000559133.5:c.973G>T
ENST00000559133.6:c.5666G>T	ENSP00000453958.2:p.Cys1889Phe
ENST00000674301.1:c.665G>T	ENSP00000501333.1:p.Cys222Phe
ENST00000674301.2:c.5666G>T	ENSP00000501333.2:p.Cys1889Phe
ENST00000684448.1:n.4340G>T