Canonical Allele Identifier: CA392320714

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704783C>A (hg19) ; chr15:g.48412586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412586C>A , CM000677.2:g.48412586C>A	GRCh38
NC_000015.9:g.48704783C>A , CM000677.1:g.48704783C>A	GRCh37
NC_000015.8:g.46492075C>A	NCBI36
NG_008805.2:g.238203G>T , LRG_778:g.238203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1017G>T	ENSP00000453958.2:n.*1017G>T
ENST00000674301.2:c.*1722G>T	ENSP00000501333.2:n.*1722G>T
ENST00000682158.1:n.1590G>T
ENST00000682170.1:n.2390G>T
ENST00000682767.1:n.1506G>T
ENST00000316623.10:c.8209G>T MANE Select	ENSP00000325527.5:p.Asp2737Tyr
ENST00000674301.1:c.3375G>T	ENSP00000501333.1:n.3375G>T
ENST00000316623.9:c.8209G>T	ENSP00000325527.5:p.Asp2737Tyr
ENST00000559133.5:c.3578G>T
ENST00000561429.1:n.464G>T
NM_000138.4:c.8209G>T , LRG_778t1:c.8209G>T	NP_000129.3:p.Asp2737Tyr
NM_000138.5:c.8209G>T MANE Select	NP_000129.3:p.Asp2737Tyr