Canonical Allele Identifier: CA392327614

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717585C>G (hg19) ; chr15:g.48425388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425388C>G , CM000677.2:g.48425388C>G	GRCh38
NC_000015.9:g.48717585C>G , CM000677.1:g.48717585C>G	GRCh37
NC_000015.8:g.46504877C>G	NCBI36
NG_008805.2:g.225401G>C , LRG_778:g.225401G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*242G>C	ENSP00000453958.2:n.*242G>C
ENST00000674301.2:c.*947G>C	ENSP00000501333.2:n.*947G>C
ENST00000682170.1:n.1615G>C
ENST00000682767.1:n.731G>C
ENST00000316623.10:c.7434G>C MANE Select	ENSP00000325527.5:p.Glu2478Asp
ENST00000674301.1:c.2600G>C	ENSP00000501333.1:n.2600G>C
ENST00000316623.9:c.7434G>C	ENSP00000325527.5:p.Glu2478Asp
ENST00000559133.5:c.2803G>C
NM_000138.4:c.7434G>C , LRG_778t1:c.7434G>C	NP_000129.3:p.Glu2478Asp
NM_000138.5:c.7434G>C MANE Select	NP_000129.3:p.Glu2478Asp