Canonical Allele Identifier: CA392329883

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427679G>T , CM000677.2:g.48427679G>T	GRCh38
NC_000015.9:g.48719876G>T , CM000677.1:g.48719876G>T	GRCh37
NC_000015.8:g.46507168G>T	NCBI36
NG_008805.2:g.223110C>A , LRG_778:g.223110C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7154C>A	ENSP00000453958.2:p.Ala2385Asp
ENST00000674301.2:c.*605C>A	ENSP00000501333.2:n.*605C>A
ENST00000682170.1:n.1273C>A
ENST00000682767.1:n.389C>A
ENST00000316623.10:c.7092C>A MANE Select	ENSP00000325527.5:p.Cys2364Ter
ENST00000674301.1:c.2258C>A	ENSP00000501333.1:n.2258C>A
ENST00000316623.9:c.7092C>A	ENSP00000325527.5:p.Cys2364Ter
ENST00000559133.5:c.2461C>A
NM_000138.4:c.7092C>A , LRG_778t1:c.7092C>A	NP_000129.3:p.Cys2364Ter
NM_000138.5:c.7092C>A MANE Select	NP_000129.3:p.Cys2364Ter