Canonical Allele Identifier: CA392326195

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714253C>G (hg19) ; chr15:g.48422056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422056C>G , CM000677.2:g.48422056C>G	GRCh38
NC_000015.9:g.48714253C>G , CM000677.1:g.48714253C>G	GRCh37
NC_000015.8:g.46501545C>G	NCBI36
NG_008805.2:g.228733G>C , LRG_778:g.228733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*274G>C	ENSP00000453958.2:n.*274G>C
ENST00000674301.2:c.*979G>C	ENSP00000501333.2:n.*979G>C
ENST00000682170.1:n.1647G>C
ENST00000682767.1:n.763G>C
ENST00000316623.10:c.7466G>C MANE Select	ENSP00000325527.5:p.Cys2489Ser
ENST00000674301.1:c.2632G>C	ENSP00000501333.1:n.2632G>C
ENST00000316623.9:c.7466G>C	ENSP00000325527.5:p.Cys2489Ser
ENST00000559133.5:c.2835G>C
NM_000138.4:c.7466G>C , LRG_778t1:c.7466G>C	NP_000129.3:p.Cys2489Ser
NM_000138.5:c.7466G>C MANE Select	NP_000129.3:p.Cys2489Ser