Canonical Allele Identifier: CA392332643

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722960T>C (hg19) ; chr15:g.48430763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430763T>C , CM000677.2:g.48430763T>C	GRCh38
NC_000015.9:g.48722960T>C , CM000677.1:g.48722960T>C	GRCh37
NC_000015.8:g.46510252T>C	NCBI36
NG_008805.2:g.220026A>G , LRG_778:g.220026A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6779A>G	ENSP00000453958.2:p.Glu2260Gly
ENST00000674301.2:c.*230A>G	ENSP00000501333.2:n.*230A>G
ENST00000682170.1:n.388A>G
ENST00000316623.10:c.6779A>G MANE Select	ENSP00000325527.5:p.Glu2260Gly
ENST00000674301.1:c.1883A>G	ENSP00000501333.1:n.1883A>G
ENST00000316623.9:c.6779A>G	ENSP00000325527.5:p.Glu2260Gly
ENST00000559133.5:c.2086A>G
ENST00000560720.1:n.66A>G
NM_000138.4:c.6779A>G , LRG_778t1:c.6779A>G	NP_000129.3:p.Glu2260Gly
NM_000138.5:c.6779A>G MANE Select	NP_000129.3:p.Glu2260Gly