Canonical Allele Identifier: CA392322788

Gene: FBN1

Linked Data

• dbSNP Id: rs751894266
• MyVariant Identifiers: chr15:g.48707799C>T (hg19) ; chr15:g.48415602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415602C>T , CM000677.2:g.48415602C>T	GRCh38
NC_000015.9:g.48707799C>T , CM000677.1:g.48707799C>T	GRCh37
NC_000015.8:g.46495091C>T	NCBI36
NG_008805.2:g.235187G>A , LRG_778:g.235187G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*793G>A	ENSP00000453958.2:n.*793G>A
ENST00000674301.2:c.*1498G>A	ENSP00000501333.2:n.*1498G>A
ENST00000682158.1:n.1366G>A
ENST00000682170.1:n.2166G>A
ENST00000682767.1:n.1282G>A
ENST00000316623.10:c.7985G>A MANE Select	ENSP00000325527.5:p.Gly2662Asp
ENST00000674301.1:c.3151G>A	ENSP00000501333.1:n.3151G>A
ENST00000316623.9:c.7985G>A	ENSP00000325527.5:p.Gly2662Asp
ENST00000559133.5:c.3354G>A
ENST00000561429.1:n.240G>A
NM_000138.4:c.7985G>A , LRG_778t1:c.7985G>A	NP_000129.3:p.Gly2662Asp
NM_000138.5:c.7985G>A MANE Select	NP_000129.3:p.Gly2662Asp