Canonical Allele Identifier: CA490118876

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703352G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411155G>A , CM000677.2:g.48411155G>A	GRCh38
NC_000015.9:g.48703352G>A , CM000677.1:g.48703352G>A	GRCh37
NC_000015.8:g.46490644G>A	NCBI36
NG_008805.2:g.239634C>T , LRG_778:g.239634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1259C>T	ENSP00000453958.2:n.*1259C>T
ENST00000674301.2:c.*1964C>T	ENSP00000501333.2:n.*1964C>T
ENST00000682158.1:n.1832C>T
ENST00000682170.1:n.2632C>T
ENST00000682767.1:n.1748C>T
ENST00000316623.10:c.8451C>T MANE Select	ENSP00000325527.5:p.Phe2817=
ENST00000674301.1:c.3617C>T	ENSP00000501333.1:n.3617C>T
ENST00000316623.9:c.8451C>T	ENSP00000325527.5:p.Phe2817=
ENST00000559133.5:c.3820C>T
NM_000138.4:c.8451C>T , LRG_778t1:c.8451C>T	NP_000129.3:p.Phe2817=
NM_000138.5:c.8451C>T MANE Select	NP_000129.3:p.Phe2817=