Canonical Allele Identifier: CA490016784

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717648A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425451A>G , CM000677.2:g.48425451A>G	GRCh38
NC_000015.9:g.48717648A>G , CM000677.1:g.48717648A>G	GRCh37
NC_000015.8:g.46504940A>G	NCBI36
NG_008805.2:g.225338T>C , LRG_778:g.225338T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*179T>C	ENSP00000453958.2:n.*179T>C
ENST00000674301.2:c.*884T>C	ENSP00000501333.2:n.*884T>C
ENST00000682170.1:n.1552T>C
ENST00000682767.1:n.668T>C
ENST00000316623.10:c.7371T>C MANE Select	ENSP00000325527.5:p.Phe2457=
ENST00000674301.1:c.2537T>C	ENSP00000501333.1:n.2537T>C
ENST00000316623.9:c.7371T>C	ENSP00000325527.5:p.Phe2457=
ENST00000559133.5:c.2740T>C
NM_000138.4:c.7371T>C , LRG_778t1:c.7371T>C	NP_000129.3:p.Phe2457=
NM_000138.5:c.7371T>C MANE Select	NP_000129.3:p.Phe2457=