Canonical Allele Identifier: CA392327775

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425416G>T , CM000677.2:g.48425416G>T	GRCh38
NC_000015.9:g.48717613G>T , CM000677.1:g.48717613G>T	GRCh37
NC_000015.8:g.46504905G>T	NCBI36
NG_008805.2:g.225373C>A , LRG_778:g.225373C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7406C>A MANE Select	NP_000129.3:p.Ser2469Ter
ENST00000316623.10:c.7406C>A MANE Select	ENSP00000325527.5:p.Ser2469Ter
NM_000138.4:c.7406C>A , LRG_778t1:c.7406C>A	NP_000129.3:p.Ser2469Ter
ENST00000316623.9:c.7406C>A	ENSP00000325527.5:p.Ser2469Ter
ENST00000559133.5:c.2775C>A
ENST00000559133.6:c.*214C>A	ENSP00000453958.2:n.*214C>A
ENST00000674301.1:c.2572C>A	ENSP00000501333.1:n.2572C>A
ENST00000674301.2:c.*919C>A	ENSP00000501333.2:n.*919C>A
ENST00000682170.1:n.1587C>A
ENST00000682767.1:n.703C>A