Canonical Allele Identifier: CA392319436

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703452A>G (hg19) ; chr15:g.48411255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411255A>G , CM000677.2:g.48411255A>G	GRCh38
NC_000015.9:g.48703452A>G , CM000677.1:g.48703452A>G	GRCh37
NC_000015.8:g.46490744A>G	NCBI36
NG_008805.2:g.239534T>C , LRG_778:g.239534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1159T>C	ENSP00000453958.2:n.*1159T>C
ENST00000674301.2:c.*1864T>C	ENSP00000501333.2:n.*1864T>C
ENST00000682158.1:n.1732T>C
ENST00000682170.1:n.2532T>C
ENST00000682767.1:n.1648T>C
ENST00000316623.10:c.8351T>C MANE Select	ENSP00000325527.5:p.Leu2784Pro
ENST00000674301.1:c.3517T>C	ENSP00000501333.1:n.3517T>C
ENST00000316623.9:c.8351T>C	ENSP00000325527.5:p.Leu2784Pro
ENST00000559133.5:c.3720T>C
ENST00000561429.1:n.606T>C
NM_000138.4:c.8351T>C , LRG_778t1:c.8351T>C	NP_000129.3:p.Leu2784Pro
NM_000138.5:c.8351T>C MANE Select	NP_000129.3:p.Leu2784Pro