Canonical Allele Identifier: CA269519053

Gene: FBN1

Linked Data

• dbSNP Id: rs113812013
• MyVariant Identifiers: chr15:g.48707896T>A (hg19) ; chr15:g.48415699T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415699T>A , CM000677.2:g.48415699T>A	GRCh38
NC_000015.9:g.48707896T>A , CM000677.1:g.48707896T>A	GRCh37
NC_000015.8:g.46495188T>A	NCBI36
NG_008805.2:g.235090A>T , LRG_778:g.235090A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*696A>T	ENSP00000453958.2:n.*696A>T
ENST00000674301.2:c.*1401A>T	ENSP00000501333.2:n.*1401A>T
ENST00000682158.1:n.1269A>T
ENST00000682170.1:n.2069A>T
ENST00000682767.1:n.1185A>T
ENST00000316623.10:c.7888A>T MANE Select	ENSP00000325527.5:p.Lys2630Ter
ENST00000674301.1:c.3054A>T	ENSP00000501333.1:n.3054A>T
ENST00000316623.9:c.7888A>T	ENSP00000325527.5:p.Lys2630Ter
ENST00000559133.5:c.3257A>T
ENST00000561429.1:n.143A>T
NM_000138.4:c.7888A>T , LRG_778t1:c.7888A>T	NP_000129.3:p.Lys2630Ter
NM_000138.5:c.7888A>T MANE Select	NP_000129.3:p.Lys2630Ter