Canonical Allele Identifier: CA392319382

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703443A>C (hg19) ; chr15:g.48411246A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411246A>C , CM000677.2:g.48411246A>C	GRCh38
NC_000015.9:g.48703443A>C , CM000677.1:g.48703443A>C	GRCh37
NC_000015.8:g.46490735A>C	NCBI36
NG_008805.2:g.239543T>G , LRG_778:g.239543T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1168T>G	ENSP00000453958.2:n.*1168T>G
ENST00000674301.2:c.*1873T>G	ENSP00000501333.2:n.*1873T>G
ENST00000682158.1:n.1741T>G
ENST00000682170.1:n.2541T>G
ENST00000682767.1:n.1657T>G
ENST00000316623.10:c.8360T>G MANE Select	ENSP00000325527.5:p.Leu2787Arg
ENST00000674301.1:c.3526T>G	ENSP00000501333.1:n.3526T>G
ENST00000316623.9:c.8360T>G	ENSP00000325527.5:p.Leu2787Arg
ENST00000559133.5:c.3729T>G
ENST00000561429.1:n.615T>G
NM_000138.4:c.8360T>G , LRG_778t1:c.8360T>G	NP_000129.3:p.Leu2787Arg
NM_000138.5:c.8360T>G MANE Select	NP_000129.3:p.Leu2787Arg