Canonical Allele Identifier: CA16614469

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411015A>T , CM000677.2:g.48411015A>T	GRCh38
NC_000015.9:g.48703212A>T , CM000677.1:g.48703212A>T	GRCh37
NC_000015.8:g.46490504A>T	NCBI36
NG_008805.2:g.239774T>A , LRG_778:g.239774T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8591T>A MANE Select	NP_000129.3:p.Met2864Lys
ENST00000316623.10:c.8591T>A MANE Select	ENSP00000325527.5:p.Met2864Lys
NM_000138.4:c.8591T>A , LRG_778t1:c.8591T>A	NP_000129.3:p.Met2864Lys
ENST00000316623.9:c.8591T>A	ENSP00000325527.5:p.Met2864Lys
ENST00000559133.5:c.3960T>A
ENST00000559133.6:c.*1399T>A	ENSP00000453958.2:n.*1399T>A
ENST00000682158.1:n.1972T>A
ENST00000682170.1:n.2772T>A
ENST00000682767.1:n.1888T>A