Canonical Allele Identifier: CA392338003

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48733936T>A (hg19) ; chr15:g.48441739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441739T>A , CM000677.2:g.48441739T>A	GRCh38
NC_000015.9:g.48733936T>A , CM000677.1:g.48733936T>A	GRCh37
NC_000015.8:g.46521228T>A	NCBI36
NG_008805.2:g.209050A>T , LRG_778:g.209050A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6145A>T	ENSP00000453958.2:p.Ser2049Cys
ENST00000674301.2:c.6145A>T	ENSP00000501333.2:p.Ser2049Cys
ENST00000316623.10:c.6145A>T MANE Select	ENSP00000325527.5:p.Ser2049Cys
ENST00000674301.1:c.1144A>T	ENSP00000501333.1:p.Ser382Cys
ENST00000316623.9:c.6145A>T	ENSP00000325527.5:p.Ser2049Cys
ENST00000537463.6:c.*1908A>T	ENSP00000440294.2:n.*1908A>T
ENST00000559133.5:c.1452A>T
ENST00000560820.1:n.265A>T
NM_000138.4:c.6145A>T , LRG_778t1:c.6145A>T	NP_000129.3:p.Ser2049Cys
NM_000138.5:c.6145A>T MANE Select	NP_000129.3:p.Ser2049Cys