Canonical Allele Identifier: CA269519589

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420741T>C , CM000677.2:g.48420741T>C	GRCh38
NC_000015.9:g.48712938T>C , CM000677.1:g.48712938T>C	GRCh37
NC_000015.8:g.46500230T>C	NCBI36
NG_008805.2:g.230048A>G , LRG_778:g.230048A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7765A>G MANE Select	NP_000129.3:p.Arg2589Gly
ENST00000316623.10:c.7765A>G MANE Select	ENSP00000325527.5:p.Arg2589Gly
NM_000138.4:c.7765A>G , LRG_778t1:c.7765A>G	NP_000129.3:p.Arg2589Gly
ENST00000316623.9:c.7765A>G	ENSP00000325527.5:p.Arg2589Gly
ENST00000559133.5:c.3134A>G
ENST00000559133.6:c.*573A>G	ENSP00000453958.2:n.*573A>G
ENST00000674301.1:c.2931A>G	ENSP00000501333.1:n.2931A>G
ENST00000674301.2:c.*1278A>G	ENSP00000501333.2:n.*1278A>G
ENST00000682170.1:n.1946A>G
ENST00000682767.1:n.1062A>G