Canonical Allele Identifier: CA392322752

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48707793G>T (hg19) ; chr15:g.48415596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415596G>T , CM000677.2:g.48415596G>T	GRCh38
NC_000015.9:g.48707793G>T , CM000677.1:g.48707793G>T	GRCh37
NC_000015.8:g.46495085G>T	NCBI36
NG_008805.2:g.235193C>A , LRG_778:g.235193C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*799C>A	ENSP00000453958.2:n.*799C>A
ENST00000674301.2:c.*1504C>A	ENSP00000501333.2:n.*1504C>A
ENST00000682158.1:n.1372C>A
ENST00000682170.1:n.2172C>A
ENST00000682767.1:n.1288C>A
ENST00000316623.10:c.7991C>A MANE Select	ENSP00000325527.5:p.Ser2664Tyr
ENST00000674301.1:c.3157C>A	ENSP00000501333.1:n.3157C>A
ENST00000316623.9:c.7991C>A	ENSP00000325527.5:p.Ser2664Tyr
ENST00000559133.5:c.3360C>A
ENST00000561429.1:n.246C>A
NM_000138.4:c.7991C>A , LRG_778t1:c.7991C>A	NP_000129.3:p.Ser2664Tyr
NM_000138.5:c.7991C>A MANE Select	NP_000129.3:p.Ser2664Tyr