Canonical Allele Identifier: CA490017944

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720658T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428461T>C , CM000677.2:g.48428461T>C	GRCh38
NC_000015.9:g.48720658T>C , CM000677.1:g.48720658T>C	GRCh37
NC_000015.8:g.46507950T>C	NCBI36
NG_008805.2:g.222328A>G , LRG_778:g.222328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6882A>G	ENSP00000453958.2:p.Glu2294=
ENST00000674301.2:c.*333A>G	ENSP00000501333.2:n.*333A>G
ENST00000682170.1:n.491A>G
ENST00000682767.1:n.117A>G
ENST00000316623.10:c.6882A>G MANE Select	ENSP00000325527.5:p.Glu2294=
ENST00000674301.1:c.1986A>G	ENSP00000501333.1:n.1986A>G
ENST00000316623.9:c.6882A>G	ENSP00000325527.5:p.Glu2294=
ENST00000559133.5:c.2189A>G
ENST00000560720.1:n.169A>G
NM_000138.4:c.6882A>G , LRG_778t1:c.6882A>G	NP_000129.3:p.Glu2294=
NM_000138.5:c.6882A>G MANE Select	NP_000129.3:p.Glu2294=