Canonical Allele Identifier: CA490015591

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713759A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421562A>G , CM000677.2:g.48421562A>G	GRCh38
NC_000015.9:g.48713759A>G , CM000677.1:g.48713759A>G	GRCh37
NC_000015.8:g.46501051A>G	NCBI36
NG_008805.2:g.229227T>C , LRG_778:g.229227T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*503T>C	ENSP00000453958.2:n.*503T>C
ENST00000674301.2:c.*1208T>C	ENSP00000501333.2:n.*1208T>C
ENST00000682170.1:n.1876T>C
ENST00000682767.1:n.992T>C
ENST00000316623.10:c.7695T>C MANE Select	ENSP00000325527.5:p.Cys2565=
ENST00000674301.1:c.2861T>C	ENSP00000501333.1:n.2861T>C
ENST00000316623.9:c.7695T>C	ENSP00000325527.5:p.Cys2565=
ENST00000559133.5:c.3064T>C
NM_000138.4:c.7695T>C , LRG_778t1:c.7695T>C	NP_000129.3:p.Cys2565=
NM_000138.5:c.7695T>C MANE Select	NP_000129.3:p.Cys2565=