Canonical Allele Identifier: CA392318800

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703307A>C (hg19) ; chr15:g.48411110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411110A>C , CM000677.2:g.48411110A>C	GRCh38
NC_000015.9:g.48703307A>C , CM000677.1:g.48703307A>C	GRCh37
NC_000015.8:g.46490599A>C	NCBI36
NG_008805.2:g.239679T>G , LRG_778:g.239679T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1304T>G	ENSP00000453958.2:n.*1304T>G
ENST00000674301.2:c.*2009T>G	ENSP00000501333.2:n.*2009T>G
ENST00000682158.1:n.1877T>G
ENST00000682170.1:n.2677T>G
ENST00000682767.1:n.1793T>G
ENST00000316623.10:c.8496T>G MANE Select	ENSP00000325527.5:p.Ser2832Arg
ENST00000674301.1:c.3662T>G	ENSP00000501333.1:n.3662T>G
ENST00000316623.9:c.8496T>G	ENSP00000325527.5:p.Ser2832Arg
ENST00000559133.5:c.3865T>G
NM_000138.4:c.8496T>G , LRG_778t1:c.8496T>G	NP_000129.3:p.Ser2832Arg
NM_000138.5:c.8496T>G MANE Select	NP_000129.3:p.Ser2832Arg