Canonical Allele Identifier: CA017493

Gene: FBN1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415588C>T , CM000677.2:g.48415588C>T	GRCh38
NC_000015.9:g.48707785C>T , CM000677.1:g.48707785C>T	GRCh37
NC_000015.8:g.46495077C>T	NCBI36
NG_008805.2:g.235201G>A , LRG_778:g.235201G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*807G>A	ENSP00000453958.2:n.*807G>A
ENST00000674301.2:c.*1512G>A	ENSP00000501333.2:n.*1512G>A
ENST00000682158.1:n.1380G>A
ENST00000682170.1:n.2180G>A
ENST00000682767.1:n.1296G>A
ENST00000316623.10:c.7999G>A MANE Select	ENSP00000325527.5:p.Glu2667Lys
ENST00000674301.1:c.3165G>A	ENSP00000501333.1:n.3165G>A
ENST00000316623.9:c.7999G>A	ENSP00000325527.5:p.Glu2667Lys
ENST00000559133.5:c.3368G>A
ENST00000561429.1:n.254G>A
NM_000138.4:c.7999G>A , LRG_778t1:c.7999G>A	NP_000129.3:p.Glu2667Lys
NM_000138.5:c.7999G>A MANE Select	NP_000129.3:p.Glu2667Lys