Canonical Allele Identifier: CA392327666

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717592A>C (hg19) ; chr15:g.48425395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425395A>C , CM000677.2:g.48425395A>C	GRCh38
NC_000015.9:g.48717592A>C , CM000677.1:g.48717592A>C	GRCh37
NC_000015.8:g.46504884A>C	NCBI36
NG_008805.2:g.225394T>G , LRG_778:g.225394T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*235T>G	ENSP00000453958.2:n.*235T>G
ENST00000674301.2:c.*940T>G	ENSP00000501333.2:n.*940T>G
ENST00000682170.1:n.1608T>G
ENST00000682767.1:n.724T>G
ENST00000316623.10:c.7427T>G MANE Select	ENSP00000325527.5:p.Leu2476Arg
ENST00000674301.1:c.2593T>G	ENSP00000501333.1:n.2593T>G
ENST00000316623.9:c.7427T>G	ENSP00000325527.5:p.Leu2476Arg
ENST00000559133.5:c.2796T>G
NM_000138.4:c.7427T>G , LRG_778t1:c.7427T>G	NP_000129.3:p.Leu2476Arg
NM_000138.5:c.7427T>G MANE Select	NP_000129.3:p.Leu2476Arg