Canonical Allele Identifier: CA059942

Gene: FBN1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411279C>T , CM000677.2:g.48411279C>T	GRCh38
NC_000015.9:g.48703476C>T , CM000677.1:g.48703476C>T	GRCh37
NC_000015.8:g.46490768C>T	NCBI36
NG_008805.2:g.239510G>A , LRG_778:g.239510G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1135G>A	ENSP00000453958.2:n.*1135G>A
ENST00000674301.2:c.*1840G>A	ENSP00000501333.2:n.*1840G>A
ENST00000682158.1:n.1708G>A
ENST00000682170.1:n.2508G>A
ENST00000682767.1:n.1624G>A
ENST00000316623.10:c.8327G>A MANE Select	ENSP00000325527.5:p.Arg2776Gln
ENST00000674301.1:c.3493G>A	ENSP00000501333.1:n.3493G>A
ENST00000316623.9:c.8327G>A	ENSP00000325527.5:p.Arg2776Gln
ENST00000559133.5:c.3696G>A
ENST00000561429.1:n.582G>A
NM_000138.4:c.8327G>A , LRG_778t1:c.8327G>A	NP_000129.3:p.Arg2776Gln
NM_000138.5:c.8327G>A MANE Select	NP_000129.3:p.Arg2776Gln