Canonical Allele Identifier: CA392325848

Gene: FBN1

Linked Data

• dbSNP Id: rs763759308
• gnomAD v2: 15-48714160-G-T
• gnomAD v3: 15-48421963-G-T
• gnomAD v4: 15-48421963-G-T
• MyVariant Identifiers: chr15:g.48714160G>T (hg19) ; chr15:g.48421963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421963G>T , CM000677.2:g.48421963G>T	GRCh38
NC_000015.9:g.48714160G>T , CM000677.1:g.48714160G>T	GRCh37
NC_000015.8:g.46501452G>T	NCBI36
NG_008805.2:g.228826C>A , LRG_778:g.228826C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*367C>A	ENSP00000453958.2:n.*367C>A
ENST00000674301.2:c.*1072C>A	ENSP00000501333.2:n.*1072C>A
ENST00000682170.1:n.1740C>A
ENST00000682767.1:n.856C>A
ENST00000316623.10:c.7559C>A MANE Select	ENSP00000325527.5:p.Thr2520Lys
ENST00000674301.1:c.2725C>A	ENSP00000501333.1:n.2725C>A
ENST00000316623.9:c.7559C>A	ENSP00000325527.5:p.Thr2520Lys
ENST00000559133.5:c.2928C>A
NM_000138.4:c.7559C>A , LRG_778t1:c.7559C>A	NP_000129.3:p.Thr2520Lys
NM_000138.5:c.7559C>A MANE Select	NP_000129.3:p.Thr2520Lys