Canonical Allele Identifier: CA392322614

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48707764A>T (hg19) ; chr15:g.48415567A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415567A>T , CM000677.2:g.48415567A>T	GRCh38
NC_000015.9:g.48707764A>T , CM000677.1:g.48707764A>T	GRCh37
NC_000015.8:g.46495056A>T	NCBI36
NG_008805.2:g.235222T>A , LRG_778:g.235222T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*828T>A	ENSP00000453958.2:n.*828T>A
ENST00000674301.2:c.*1533T>A	ENSP00000501333.2:n.*1533T>A
ENST00000682158.1:n.1401T>A
ENST00000682170.1:n.2201T>A
ENST00000682767.1:n.1317T>A
ENST00000316623.10:c.8020T>A MANE Select	ENSP00000325527.5:p.Cys2674Ser
ENST00000674301.1:c.3186T>A	ENSP00000501333.1:n.3186T>A
ENST00000316623.9:c.8020T>A	ENSP00000325527.5:p.Cys2674Ser
ENST00000559133.5:c.3389T>A
ENST00000561429.1:n.275T>A
NM_000138.4:c.8020T>A , LRG_778t1:c.8020T>A	NP_000129.3:p.Cys2674Ser
NM_000138.5:c.8020T>A MANE Select	NP_000129.3:p.Cys2674Ser