Canonical Allele Identifier: CA490014599

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704805T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412608T>C , CM000677.2:g.48412608T>C	GRCh38
NC_000015.9:g.48704805T>C , CM000677.1:g.48704805T>C	GRCh37
NC_000015.8:g.46492097T>C	NCBI36
NG_008805.2:g.238181A>G , LRG_778:g.238181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*995A>G	ENSP00000453958.2:n.*995A>G
ENST00000674301.2:c.*1700A>G	ENSP00000501333.2:n.*1700A>G
ENST00000682158.1:n.1568A>G
ENST00000682170.1:n.2368A>G
ENST00000682767.1:n.1484A>G
ENST00000316623.10:c.8187A>G MANE Select	ENSP00000325527.5:p.Lys2729=
ENST00000674301.1:c.3353A>G	ENSP00000501333.1:n.3353A>G
ENST00000316623.9:c.8187A>G	ENSP00000325527.5:p.Lys2729=
ENST00000559133.5:c.3556A>G
ENST00000561429.1:n.442A>G
NM_000138.4:c.8187A>G , LRG_778t1:c.8187A>G	NP_000129.3:p.Lys2729=
NM_000138.5:c.8187A>G MANE Select	NP_000129.3:p.Lys2729=