Canonical Allele Identifier: CA058198

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425786A>G , CM000677.2:g.48425786A>G	GRCh38
NC_000015.9:g.48717983A>G , CM000677.1:g.48717983A>G	GRCh37
NC_000015.8:g.46505275A>G	NCBI36
NG_008805.2:g.225003T>C , LRG_778:g.225003T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7283T>C MANE Select	NP_000129.3:p.Ile2428Thr
ENST00000316623.10:c.7283T>C MANE Select	ENSP00000325527.5:p.Ile2428Thr
NM_000138.4:c.7283T>C , LRG_778t1:c.7283T>C	NP_000129.3:p.Ile2428Thr
ENST00000316623.9:c.7283T>C	ENSP00000325527.5:p.Ile2428Thr
ENST00000559133.5:c.2652T>C
ENST00000559133.6:c.*91T>C	ENSP00000453958.2:n.*91T>C
ENST00000674301.1:c.2449T>C	ENSP00000501333.1:n.2449T>C
ENST00000674301.2:c.*796T>C	ENSP00000501333.2:n.*796T>C
ENST00000682170.1:n.1464T>C
ENST00000682767.1:n.580T>C