Canonical Allele Identifier: CA490017909

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720637G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428440G>T , CM000677.2:g.48428440G>T	GRCh38
NC_000015.9:g.48720637G>T , CM000677.1:g.48720637G>T	GRCh37
NC_000015.8:g.46507929G>T	NCBI36
NG_008805.2:g.222349C>A , LRG_778:g.222349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6903C>A	ENSP00000453958.2:p.Ile2301=
ENST00000674301.2:c.*354C>A	ENSP00000501333.2:n.*354C>A
ENST00000682170.1:n.512C>A
ENST00000682767.1:n.138C>A
ENST00000316623.10:c.6903C>A MANE Select	ENSP00000325527.5:p.Ile2301=
ENST00000674301.1:c.2007C>A	ENSP00000501333.1:n.2007C>A
ENST00000316623.9:c.6903C>A	ENSP00000325527.5:p.Ile2301=
ENST00000559133.5:c.2210C>A
ENST00000560720.1:n.190C>A
NM_000138.4:c.6903C>A , LRG_778t1:c.6903C>A	NP_000129.3:p.Ile2301=
NM_000138.5:c.6903C>A MANE Select	NP_000129.3:p.Ile2301=