Canonical Allele Identifier: CA054328

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463209G>A , CM000677.2:g.48463209G>A	GRCh38
NC_000015.9:g.48755406G>A , CM000677.1:g.48755406G>A	GRCh37
NC_000015.8:g.46542698G>A	NCBI36
NG_008805.2:g.187580C>T , LRG_778:g.187580C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5097C>T MANE Select	NP_000129.3:p.Tyr1699=
ENST00000316623.10:c.5097C>T MANE Select	ENSP00000325527.5:p.Tyr1699=
NM_000138.4:c.5097C>T , LRG_778t1:c.5097C>T	NP_000129.3:p.Tyr1699=
ENST00000316623.9:c.5097C>T	ENSP00000325527.5:p.Tyr1699=
ENST00000537463.6:c.*860C>T	ENSP00000440294.2:n.*860C>T
ENST00000559133.5:c.404C>T
ENST00000559133.6:c.5097C>T	ENSP00000453958.2:p.Tyr1699=
ENST00000674301.1:c.96C>T	ENSP00000501333.1:p.Tyr32=
ENST00000674301.2:c.5097C>T	ENSP00000501333.2:p.Tyr1699=
ENST00000684448.1:n.3771C>T