Canonical Allele Identifier: CA056628

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437352T>C , CM000677.2:g.48437352T>C	GRCh38
NC_000015.9:g.48729549T>C , CM000677.1:g.48729549T>C	GRCh37
NC_000015.8:g.46516841T>C	NCBI36
NG_008805.2:g.213437A>G , LRG_778:g.213437A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6349A>G MANE Select	NP_000129.3:p.Ile2117Val
ENST00000316623.10:c.6349A>G MANE Select	ENSP00000325527.5:p.Ile2117Val
NM_000138.4:c.6349A>G , LRG_778t1:c.6349A>G	NP_000129.3:p.Ile2117Val
ENST00000316623.9:c.6349A>G	ENSP00000325527.5:p.Ile2117Val
ENST00000537463.6:c.*2112A>G	ENSP00000440294.2:n.*2112A>G
ENST00000559133.5:c.1656A>G
ENST00000559133.6:c.6349A>G	ENSP00000453958.2:p.Ile2117Val
ENST00000674301.1:c.1348A>G	ENSP00000501333.1:p.Ile450Val
ENST00000674301.2:c.6349A>G	ENSP00000501333.2:p.Ile2117Val