Canonical Allele Identifier: CA392318731

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703290T>G (hg19) ; chr15:g.48411093T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411093T>G , CM000677.2:g.48411093T>G	GRCh38
NC_000015.9:g.48703290T>G , CM000677.1:g.48703290T>G	GRCh37
NC_000015.8:g.46490582T>G	NCBI36
NG_008805.2:g.239696A>C , LRG_778:g.239696A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1321A>C	ENSP00000453958.2:n.*1321A>C
ENST00000682158.1:n.1894A>C
ENST00000682170.1:n.2694A>C
ENST00000682767.1:n.1810A>C
ENST00000316623.10:c.8513A>C MANE Select	ENSP00000325527.5:p.Lys2838Thr
ENST00000316623.9:c.8513A>C	ENSP00000325527.5:p.Lys2838Thr
ENST00000559133.5:c.3882A>C
NM_000138.4:c.8513A>C , LRG_778t1:c.8513A>C	NP_000129.3:p.Lys2838Thr
NM_000138.5:c.8513A>C MANE Select	NP_000129.3:p.Lys2838Thr