Canonical Allele Identifier: CA490310942
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48782250C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490053C>T , CM000677.2:g.48490053C>T GRCh38
NC_000015.9:g.48782250C>T , CM000677.1:g.48782250C>T GRCh37
NC_000015.8:g.46569542C>T NCBI36
NG_008805.2:g.160736G>A , LRG_778:g.160736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2880G>A ENSP00000453958.2:p.Leu960=
ENST00000674301.2:c.2880G>A ENSP00000501333.2:p.Leu960=
ENST00000684448.1:n.1554G>A
ENST00000316623.10:c.2880G>A MANE Select ENSP00000325527.5:p.Leu960=
ENST00000316623.9:c.2880G>A ENSP00000325527.5:p.Leu960=
ENST00000537463.6:c.637-15403G>A ENSP00000440294.2:n.637-15403G>A
NM_000138.4:c.2880G>A , LRG_778t1:c.2880G>A NP_000129.3:p.Leu960=
NM_000138.5:c.2880G>A MANE Select NP_000129.3:p.Leu960=