Canonical Allele Identifier: CA490014468

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704778G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412581G>A , CM000677.2:g.48412581G>A	GRCh38
NC_000015.9:g.48704778G>A , CM000677.1:g.48704778G>A	GRCh37
NC_000015.8:g.46492070G>A	NCBI36
NG_008805.2:g.238208C>T , LRG_778:g.238208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1022C>T	ENSP00000453958.2:n.*1022C>T
ENST00000674301.2:c.*1727C>T	ENSP00000501333.2:n.*1727C>T
ENST00000682158.1:n.1595C>T
ENST00000682170.1:n.2395C>T
ENST00000682767.1:n.1511C>T
ENST00000316623.10:c.8214C>T MANE Select	ENSP00000325527.5:p.Ala2738=
ENST00000674301.1:c.3380C>T	ENSP00000501333.1:n.3380C>T
ENST00000316623.9:c.8214C>T	ENSP00000325527.5:p.Ala2738=
ENST00000559133.5:c.3583C>T
ENST00000561429.1:n.469C>T
NM_000138.4:c.8214C>T , LRG_778t1:c.8214C>T	NP_000129.3:p.Ala2738=
NM_000138.5:c.8214C>T MANE Select	NP_000129.3:p.Ala2738=