Canonical Allele Identifier: CA392323438

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415754G>T , CM000677.2:g.48415754G>T	GRCh38
NC_000015.9:g.48707951G>T , CM000677.1:g.48707951G>T	GRCh37
NC_000015.8:g.46495243G>T	NCBI36
NG_008805.2:g.235035C>A , LRG_778:g.235035C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7833C>A MANE Select	NP_000129.3:p.Cys2611Ter
ENST00000316623.10:c.7833C>A MANE Select	ENSP00000325527.5:p.Cys2611Ter
NM_000138.4:c.7833C>A , LRG_778t1:c.7833C>A	NP_000129.3:p.Cys2611Ter
ENST00000316623.9:c.7833C>A	ENSP00000325527.5:p.Cys2611Ter
ENST00000559133.5:c.3202C>A
ENST00000559133.6:c.*641C>A	ENSP00000453958.2:n.*641C>A
ENST00000561429.1:n.88C>A
ENST00000674301.1:c.2999C>A	ENSP00000501333.1:n.2999C>A
ENST00000674301.2:c.*1346C>A	ENSP00000501333.2:n.*1346C>A
ENST00000682158.1:n.1214C>A
ENST00000682170.1:n.2014C>A
ENST00000682767.1:n.1130C>A