Canonical Allele Identifier: CA490016713

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717594A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425397A>G , CM000677.2:g.48425397A>G	GRCh38
NC_000015.9:g.48717594A>G , CM000677.1:g.48717594A>G	GRCh37
NC_000015.8:g.46504886A>G	NCBI36
NG_008805.2:g.225392T>C , LRG_778:g.225392T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*233T>C	ENSP00000453958.2:n.*233T>C
ENST00000674301.2:c.*938T>C	ENSP00000501333.2:n.*938T>C
ENST00000682170.1:n.1606T>C
ENST00000682767.1:n.722T>C
ENST00000316623.10:c.7425T>C MANE Select	ENSP00000325527.5:p.Ile2475=
ENST00000674301.1:c.2591T>C	ENSP00000501333.1:n.2591T>C
ENST00000316623.9:c.7425T>C	ENSP00000325527.5:p.Ile2475=
ENST00000559133.5:c.2794T>C
NM_000138.4:c.7425T>C , LRG_778t1:c.7425T>C	NP_000129.3:p.Ile2475=
NM_000138.5:c.7425T>C MANE Select	NP_000129.3:p.Ile2475=