Canonical Allele Identifier: CA392319396

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703444G>T (hg19) ; chr15:g.48411247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411247G>T , CM000677.2:g.48411247G>T	GRCh38
NC_000015.9:g.48703444G>T , CM000677.1:g.48703444G>T	GRCh37
NC_000015.8:g.46490736G>T	NCBI36
NG_008805.2:g.239542C>A , LRG_778:g.239542C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1167C>A	ENSP00000453958.2:n.*1167C>A
ENST00000674301.2:c.*1872C>A	ENSP00000501333.2:n.*1872C>A
ENST00000682158.1:n.1740C>A
ENST00000682170.1:n.2540C>A
ENST00000682767.1:n.1656C>A
ENST00000316623.10:c.8359C>A MANE Select	ENSP00000325527.5:p.Leu2787Met
ENST00000674301.1:c.3525C>A	ENSP00000501333.1:n.3525C>A
ENST00000316623.9:c.8359C>A	ENSP00000325527.5:p.Leu2787Met
ENST00000559133.5:c.3728C>A
ENST00000561429.1:n.614C>A
NM_000138.4:c.8359C>A , LRG_778t1:c.8359C>A	NP_000129.3:p.Leu2787Met
NM_000138.5:c.8359C>A MANE Select	NP_000129.3:p.Leu2787Met