Canonical Allele Identifier: CA392318718

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703288T>A (hg19) ; chr15:g.48411091T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411091T>A , CM000677.2:g.48411091T>A	GRCh38
NC_000015.9:g.48703288T>A , CM000677.1:g.48703288T>A	GRCh37
NC_000015.8:g.46490580T>A	NCBI36
NG_008805.2:g.239698A>T , LRG_778:g.239698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1323A>T	ENSP00000453958.2:n.*1323A>T
ENST00000682158.1:n.1896A>T
ENST00000682170.1:n.2696A>T
ENST00000682767.1:n.1812A>T
ENST00000316623.10:c.8515A>T MANE Select	ENSP00000325527.5:p.Lys2839Ter
ENST00000316623.9:c.8515A>T	ENSP00000325527.5:p.Lys2839Ter
ENST00000559133.5:c.3884A>T
NM_000138.4:c.8515A>T , LRG_778t1:c.8515A>T	NP_000129.3:p.Lys2839Ter
NM_000138.5:c.8515A>T MANE Select	NP_000129.3:p.Lys2839Ter