Canonical Allele Identifier: CA392320189

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703566T>A (hg19) ; chr15:g.48411369T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411369T>A , CM000677.2:g.48411369T>A	GRCh38
NC_000015.9:g.48703566T>A , CM000677.1:g.48703566T>A	GRCh37
NC_000015.8:g.46490858T>A	NCBI36
NG_008805.2:g.239420A>T , LRG_778:g.239420A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1045A>T	ENSP00000453958.2:n.*1045A>T
ENST00000674301.2:c.*1750A>T	ENSP00000501333.2:n.*1750A>T
ENST00000682158.1:n.1618A>T
ENST00000682170.1:n.2418A>T
ENST00000682767.1:n.1534A>T
ENST00000316623.10:c.8237A>T MANE Select	ENSP00000325527.5:p.Glu2746Val
ENST00000674301.1:c.3403A>T	ENSP00000501333.1:n.3403A>T
ENST00000316623.9:c.8237A>T	ENSP00000325527.5:p.Glu2746Val
ENST00000559133.5:c.3606A>T
ENST00000561429.1:n.492A>T
NM_000138.4:c.8237A>T , LRG_778t1:c.8237A>T	NP_000129.3:p.Glu2746Val
NM_000138.5:c.8237A>T MANE Select	NP_000129.3:p.Glu2746Val