Canonical Allele Identifier: CA392332834

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430785C>A , CM000677.2:g.48430785C>A	GRCh38
NC_000015.9:g.48722982C>A , CM000677.1:g.48722982C>A	GRCh37
NC_000015.8:g.46510274C>A	NCBI36
NG_008805.2:g.220004G>T , LRG_778:g.220004G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6757G>T MANE Select	NP_000129.3:p.Glu2253Ter
ENST00000316623.10:c.6757G>T MANE Select	ENSP00000325527.5:p.Glu2253Ter
NM_000138.4:c.6757G>T , LRG_778t1:c.6757G>T	NP_000129.3:p.Glu2253Ter
ENST00000316623.9:c.6757G>T	ENSP00000325527.5:p.Glu2253Ter
ENST00000537463.6:c.*2520G>T	ENSP00000440294.2:n.*2520G>T
ENST00000559133.5:c.2064G>T
ENST00000559133.6:c.6757G>T	ENSP00000453958.2:p.Glu2253Ter
ENST00000560720.1:n.44G>T
ENST00000674301.1:c.1861G>T	ENSP00000501333.1:n.1861G>T
ENST00000674301.2:c.*208G>T	ENSP00000501333.2:n.*208G>T
ENST00000682170.1:n.366G>T