Canonical Allele Identifier: CA490022506

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48737637C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445440C>A , CM000677.2:g.48445440C>A	GRCh38
NC_000015.9:g.48737637C>A , CM000677.1:g.48737637C>A	GRCh37
NC_000015.8:g.46524929C>A	NCBI36
NG_008805.2:g.205349G>T , LRG_778:g.205349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5853G>T	ENSP00000453958.2:p.Val1951=
ENST00000674301.2:c.5853G>T	ENSP00000501333.2:p.Val1951=
ENST00000684448.1:n.4527G>T
ENST00000316623.10:c.5853G>T MANE Select	ENSP00000325527.5:p.Val1951=
ENST00000674301.1:c.852G>T	ENSP00000501333.1:p.Val284=
ENST00000316623.9:c.5853G>T	ENSP00000325527.5:p.Val1951=
ENST00000537463.6:c.*1616G>T	ENSP00000440294.2:n.*1616G>T
ENST00000559133.5:c.1160G>T
NM_000138.4:c.5853G>T , LRG_778t1:c.5853G>T	NP_000129.3:p.Val1951=
NM_000138.5:c.5853G>T MANE Select	NP_000129.3:p.Val1951=