Canonical Allele Identifier: CA16614510

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468462C>T , CM000677.2:g.48468462C>T	GRCh38
NC_000015.9:g.48760659C>T , CM000677.1:g.48760659C>T	GRCh37
NC_000015.8:g.46547951C>T	NCBI36
NG_008805.2:g.182327G>A , LRG_778:g.182327G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.4532G>A MANE Select	NP_000129.3:p.Cys1511Tyr
ENST00000316623.10:c.4532G>A MANE Select	ENSP00000325527.5:p.Cys1511Tyr
NM_000138.4:c.4532G>A , LRG_778t1:c.4532G>A	NP_000129.3:p.Cys1511Tyr
ENST00000316623.9:c.4532G>A	ENSP00000325527.5:p.Cys1511Tyr
ENST00000537463.6:c.*295G>A	ENSP00000440294.2:n.*295G>A
ENST00000559133.6:c.4532G>A	ENSP00000453958.2:p.Cys1511Tyr
ENST00000674301.2:c.4532G>A	ENSP00000501333.2:p.Cys1511Tyr
ENST00000684448.1:n.3206G>A