Canonical Allele Identifier: CA490023963

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456691G>T , CM000677.2:g.48456691G>T	GRCh38
NC_000015.9:g.48748888G>T , CM000677.1:g.48748888G>T	GRCh37
NC_000015.8:g.46536180G>T	NCBI36
NG_008805.2:g.194098C>A , LRG_778:g.194098C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5368C>A MANE Select	NP_000129.3:p.Arg1790=
ENST00000316623.10:c.5368C>A MANE Select	ENSP00000325527.5:p.Arg1790=
NM_000138.4:c.5368C>A , LRG_778t1:c.5368C>A	NP_000129.3:p.Arg1790=
ENST00000316623.9:c.5368C>A	ENSP00000325527.5:p.Arg1790=
ENST00000537463.6:c.*1131C>A	ENSP00000440294.2:n.*1131C>A
ENST00000559133.5:c.675C>A
ENST00000559133.6:c.5368C>A	ENSP00000453958.2:p.Arg1790=
ENST00000674301.1:c.367C>A	ENSP00000501333.1:p.Arg123=
ENST00000674301.2:c.5368C>A	ENSP00000501333.2:p.Arg1790=
ENST00000684448.1:n.4042C>A