Canonical Allele Identifier: CA490022289

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48737589A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445392A>G , CM000677.2:g.48445392A>G	GRCh38
NC_000015.9:g.48737589A>G , CM000677.1:g.48737589A>G	GRCh37
NC_000015.8:g.46524881A>G	NCBI36
NG_008805.2:g.205397T>C , LRG_778:g.205397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5901T>C	ENSP00000453958.2:p.Asp1967=
ENST00000674301.2:c.5901T>C	ENSP00000501333.2:p.Asp1967=
ENST00000684448.1:n.4575T>C
ENST00000316623.10:c.5901T>C MANE Select	ENSP00000325527.5:p.Asp1967=
ENST00000674301.1:c.900T>C	ENSP00000501333.1:p.Asp300=
ENST00000316623.9:c.5901T>C	ENSP00000325527.5:p.Asp1967=
ENST00000537463.6:c.*1664T>C	ENSP00000440294.2:n.*1664T>C
ENST00000559133.5:c.1208T>C
ENST00000560820.1:n.21T>C
NM_000138.4:c.5901T>C , LRG_778t1:c.5901T>C	NP_000129.3:p.Asp1967=
NM_000138.5:c.5901T>C MANE Select	NP_000129.3:p.Asp1967=