Canonical Allele Identifier: CA392349110

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463119C>T , CM000677.2:g.48463119C>T	GRCh38
NC_000015.9:g.48755316C>T , CM000677.1:g.48755316C>T	GRCh37
NC_000015.8:g.46542608C>T	NCBI36
NG_008805.2:g.187670G>A , LRG_778:g.187670G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5187G>A MANE Select	NP_000129.3:p.Trp1729Ter
ENST00000316623.10:c.5187G>A MANE Select	ENSP00000325527.5:p.Trp1729Ter
NM_000138.4:c.5187G>A , LRG_778t1:c.5187G>A	NP_000129.3:p.Trp1729Ter
ENST00000316623.9:c.5187G>A	ENSP00000325527.5:p.Trp1729Ter
ENST00000537463.6:c.*950G>A	ENSP00000440294.2:n.*950G>A
ENST00000559133.5:c.494G>A
ENST00000559133.6:c.5187G>A	ENSP00000453958.2:p.Trp1729Ter
ENST00000674301.1:c.186G>A	ENSP00000501333.1:p.Trp62Ter
ENST00000674301.2:c.5187G>A	ENSP00000501333.2:p.Trp1729Ter
ENST00000684448.1:n.3861G>A