Canonical Allele Identifier: CA392318470

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703227C>T (hg19) ; chr15:g.48411030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411030C>T , CM000677.2:g.48411030C>T	GRCh38
NC_000015.9:g.48703227C>T , CM000677.1:g.48703227C>T	GRCh37
NC_000015.8:g.46490519C>T	NCBI36
NG_008805.2:g.239759G>A , LRG_778:g.239759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1384G>A	ENSP00000453958.2:n.*1384G>A
ENST00000682158.1:n.1957G>A
ENST00000682170.1:n.2757G>A
ENST00000682767.1:n.1873G>A
ENST00000316623.10:c.8576G>A MANE Select	ENSP00000325527.5:p.Gly2859Asp
ENST00000316623.9:c.8576G>A	ENSP00000325527.5:p.Gly2859Asp
ENST00000559133.5:c.3945G>A
NM_000138.4:c.8576G>A , LRG_778t1:c.8576G>A	NP_000129.3:p.Gly2859Asp
NM_000138.5:c.8576G>A MANE Select	NP_000129.3:p.Gly2859Asp