Canonical Allele Identifier: CA392325854

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714163T>A (hg19) ; chr15:g.48421966T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421966T>A , CM000677.2:g.48421966T>A	GRCh38
NC_000015.9:g.48714163T>A , CM000677.1:g.48714163T>A	GRCh37
NC_000015.8:g.46501455T>A	NCBI36
NG_008805.2:g.228823A>T , LRG_778:g.228823A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*364A>T	ENSP00000453958.2:n.*364A>T
ENST00000674301.2:c.*1069A>T	ENSP00000501333.2:n.*1069A>T
ENST00000682170.1:n.1737A>T
ENST00000682767.1:n.853A>T
ENST00000316623.10:c.7556A>T MANE Select	ENSP00000325527.5:p.His2519Leu
ENST00000674301.1:c.2722A>T	ENSP00000501333.1:n.2722A>T
ENST00000316623.9:c.7556A>T	ENSP00000325527.5:p.His2519Leu
ENST00000559133.5:c.2925A>T
NM_000138.4:c.7556A>T , LRG_778t1:c.7556A>T	NP_000129.3:p.His2519Leu
NM_000138.5:c.7556A>T MANE Select	NP_000129.3:p.His2519Leu