Canonical Allele Identifier: CA392325915

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3074721
• ClinVar RCV Id: RCV004014255
• MyVariant Identifiers: chr15:g.48714190T>G (hg19) ; chr15:g.48421993T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421993T>G , CM000677.2:g.48421993T>G	GRCh38
NC_000015.9:g.48714190T>G , CM000677.1:g.48714190T>G	GRCh37
NC_000015.8:g.46501482T>G	NCBI36
NG_008805.2:g.228796A>C , LRG_778:g.228796A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*337A>C	ENSP00000453958.2:n.*337A>C
ENST00000674301.2:c.*1042A>C	ENSP00000501333.2:n.*1042A>C
ENST00000682170.1:n.1710A>C
ENST00000682767.1:n.826A>C
ENST00000316623.10:c.7529A>C MANE Select	ENSP00000325527.5:p.Lys2510Thr
ENST00000674301.1:c.2695A>C	ENSP00000501333.1:n.2695A>C
ENST00000316623.9:c.7529A>C	ENSP00000325527.5:p.Lys2510Thr
ENST00000559133.5:c.2898A>C
NM_000138.4:c.7529A>C , LRG_778t1:c.7529A>C	NP_000129.3:p.Lys2510Thr
NM_000138.5:c.7529A>C MANE Select	NP_000129.3:p.Lys2510Thr