Canonical Allele Identifier: CA392330446

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720553G>T (hg19) ; chr15:g.48428356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428356G>T , CM000677.2:g.48428356G>T	GRCh38
NC_000015.9:g.48720553G>T , CM000677.1:g.48720553G>T	GRCh37
NC_000015.8:g.46507845G>T	NCBI36
NG_008805.2:g.222433C>A , LRG_778:g.222433C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6987C>A	ENSP00000453958.2:p.Asp2329Glu
ENST00000674301.2:c.*438C>A	ENSP00000501333.2:n.*438C>A
ENST00000682170.1:n.596C>A
ENST00000682767.1:n.222C>A
ENST00000316623.10:c.6987C>A MANE Select	ENSP00000325527.5:p.Asp2329Glu
ENST00000674301.1:c.2091C>A	ENSP00000501333.1:n.2091C>A
ENST00000316623.9:c.6987C>A	ENSP00000325527.5:p.Asp2329Glu
ENST00000559133.5:c.2294C>A
ENST00000560720.1:n.274C>A
NM_000138.4:c.6987C>A , LRG_778t1:c.6987C>A	NP_000129.3:p.Asp2329Glu
NM_000138.5:c.6987C>A MANE Select	NP_000129.3:p.Asp2329Glu