Canonical Allele Identifier: CA392323268

Gene: FBN1

Linked Data

• gnomAD v4: 15-48415696-A-T
• MyVariant Identifiers: chr15:g.48707893A>T (hg19) ; chr15:g.48415696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415696A>T , CM000677.2:g.48415696A>T	GRCh38
NC_000015.9:g.48707893A>T , CM000677.1:g.48707893A>T	GRCh37
NC_000015.8:g.46495185A>T	NCBI36
NG_008805.2:g.235093T>A , LRG_778:g.235093T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*699T>A	ENSP00000453958.2:n.*699T>A
ENST00000674301.2:c.*1404T>A	ENSP00000501333.2:n.*1404T>A
ENST00000682158.1:n.1272T>A
ENST00000682170.1:n.2072T>A
ENST00000682767.1:n.1188T>A
ENST00000316623.10:c.7891T>A MANE Select	ENSP00000325527.5:p.Cys2631Ser
ENST00000674301.1:c.3057T>A	ENSP00000501333.1:n.3057T>A
ENST00000316623.9:c.7891T>A	ENSP00000325527.5:p.Cys2631Ser
ENST00000559133.5:c.3260T>A
ENST00000561429.1:n.146T>A
NM_000138.4:c.7891T>A , LRG_778t1:c.7891T>A	NP_000129.3:p.Cys2631Ser
NM_000138.5:c.7891T>A MANE Select	NP_000129.3:p.Cys2631Ser