Canonical Allele Identifier: CA392325153

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2413174
• ClinVar RCV Id: RCV003110180
• MyVariant Identifiers: chr15:g.48713811A>T (hg19) ; chr15:g.48421614A>T (hg38)
• ERepo: CA392325153/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421614A>T , CM000677.2:g.48421614A>T	GRCh38
NC_000015.9:g.48713811A>T , CM000677.1:g.48713811A>T	GRCh37
NC_000015.8:g.46501103A>T	NCBI36
NG_008805.2:g.229175T>A , LRG_778:g.229175T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*451T>A	ENSP00000453958.2:n.*451T>A
ENST00000674301.2:c.*1156T>A	ENSP00000501333.2:n.*1156T>A
ENST00000682170.1:n.1824T>A
ENST00000682767.1:n.940T>A
ENST00000316623.10:c.7643T>A MANE Select	ENSP00000325527.5:p.Phe2548Tyr
ENST00000674301.1:c.2809T>A	ENSP00000501333.1:n.2809T>A
ENST00000316623.9:c.7643T>A	ENSP00000325527.5:p.Phe2548Tyr
ENST00000559133.5:c.3012T>A
NM_000138.4:c.7643T>A , LRG_778t1:c.7643T>A	NP_000129.3:p.Phe2548Tyr
NM_000138.5:c.7643T>A MANE Select	NP_000129.3:p.Phe2548Tyr