Canonical Allele Identifier: CA392322481

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415540G>A , CM000677.2:g.48415540G>A	GRCh38
NC_000015.9:g.48707737G>A , CM000677.1:g.48707737G>A	GRCh37
NC_000015.8:g.46495029G>A	NCBI36
NG_008805.2:g.235249C>T , LRG_778:g.235249C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8047C>T MANE Select	NP_000129.3:p.Gln2683Ter
ENST00000316623.10:c.8047C>T MANE Select	ENSP00000325527.5:p.Gln2683Ter
NM_000138.4:c.8047C>T , LRG_778t1:c.8047C>T	NP_000129.3:p.Gln2683Ter
ENST00000316623.9:c.8047C>T	ENSP00000325527.5:p.Gln2683Ter
ENST00000559133.5:c.3416C>T
ENST00000559133.6:c.*855C>T	ENSP00000453958.2:n.*855C>T
ENST00000561429.1:n.302C>T
ENST00000674301.1:c.3213C>T	ENSP00000501333.1:n.3213C>T
ENST00000674301.2:c.*1560C>T	ENSP00000501333.2:n.*1560C>T
ENST00000682158.1:n.1428C>T
ENST00000682170.1:n.2228C>T
ENST00000682767.1:n.1344C>T