Canonical Allele Identifier: CA490119020

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703517G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411320G>T , CM000677.2:g.48411320G>T	GRCh38
NC_000015.9:g.48703517G>T , CM000677.1:g.48703517G>T	GRCh37
NC_000015.8:g.46490809G>T	NCBI36
NG_008805.2:g.239469C>A , LRG_778:g.239469C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1094C>A	ENSP00000453958.2:n.*1094C>A
ENST00000674301.2:c.*1799C>A	ENSP00000501333.2:n.*1799C>A
ENST00000682158.1:n.1667C>A
ENST00000682170.1:n.2467C>A
ENST00000682767.1:n.1583C>A
ENST00000316623.10:c.8286C>A MANE Select	ENSP00000325527.5:p.Ala2762=
ENST00000674301.1:c.3452C>A	ENSP00000501333.1:n.3452C>A
ENST00000316623.9:c.8286C>A	ENSP00000325527.5:p.Ala2762=
ENST00000559133.5:c.3655C>A
ENST00000561429.1:n.541C>A
NM_000138.4:c.8286C>A , LRG_778t1:c.8286C>A	NP_000129.3:p.Ala2762=
NM_000138.5:c.8286C>A MANE Select	NP_000129.3:p.Ala2762=