Canonical Allele Identifier: CA490014783

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704912G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412715G>T , CM000677.2:g.48412715G>T	GRCh38
NC_000015.9:g.48704912G>T , CM000677.1:g.48704912G>T	GRCh37
NC_000015.8:g.46492204G>T	NCBI36
NG_008805.2:g.238074C>A , LRG_778:g.238074C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*888C>A	ENSP00000453958.2:n.*888C>A
ENST00000674301.2:c.*1593C>A	ENSP00000501333.2:n.*1593C>A
ENST00000682158.1:n.1461C>A
ENST00000682170.1:n.2261C>A
ENST00000682767.1:n.1377C>A
ENST00000316623.10:c.8080C>A MANE Select	ENSP00000325527.5:p.Arg2694=
ENST00000674301.1:c.3246C>A	ENSP00000501333.1:n.3246C>A
ENST00000316623.9:c.8080C>A	ENSP00000325527.5:p.Arg2694=
ENST00000559133.5:c.3449C>A
ENST00000561429.1:n.335C>A
NM_000138.4:c.8080C>A , LRG_778t1:c.8080C>A	NP_000129.3:p.Arg2694=
NM_000138.5:c.8080C>A MANE Select	NP_000129.3:p.Arg2694=