Canonical Allele Identifier: CA392332613

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722957T>A (hg19) ; chr15:g.48430760T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430760T>A , CM000677.2:g.48430760T>A	GRCh38
NC_000015.9:g.48722957T>A , CM000677.1:g.48722957T>A	GRCh37
NC_000015.8:g.46510249T>A	NCBI36
NG_008805.2:g.220029A>T , LRG_778:g.220029A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6782A>T	ENSP00000453958.2:p.Lys2261Ile
ENST00000674301.2:c.*233A>T	ENSP00000501333.2:n.*233A>T
ENST00000682170.1:n.391A>T
ENST00000316623.10:c.6782A>T MANE Select	ENSP00000325527.5:p.Lys2261Ile
ENST00000674301.1:c.1886A>T	ENSP00000501333.1:n.1886A>T
ENST00000316623.9:c.6782A>T	ENSP00000325527.5:p.Lys2261Ile
ENST00000559133.5:c.2089A>T
ENST00000560720.1:n.69A>T
NM_000138.4:c.6782A>T , LRG_778t1:c.6782A>T	NP_000129.3:p.Lys2261Ile
NM_000138.5:c.6782A>T MANE Select	NP_000129.3:p.Lys2261Ile