Canonical Allele Identifier: CA392332918

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430794C>T , CM000677.2:g.48430794C>T	GRCh38
NC_000015.9:g.48722991C>T , CM000677.1:g.48722991C>T	GRCh37
NC_000015.8:g.46510283C>T	NCBI36
NG_008805.2:g.219995G>A , LRG_778:g.219995G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6748G>A MANE Select	NP_000129.3:p.Glu2250Lys
ENST00000316623.10:c.6748G>A MANE Select	ENSP00000325527.5:p.Glu2250Lys
NM_000138.4:c.6748G>A , LRG_778t1:c.6748G>A	NP_000129.3:p.Glu2250Lys
ENST00000316623.9:c.6748G>A	ENSP00000325527.5:p.Glu2250Lys
ENST00000537463.6:c.*2511G>A	ENSP00000440294.2:n.*2511G>A
ENST00000559133.5:c.2055G>A
ENST00000559133.6:c.6748G>A	ENSP00000453958.2:p.Glu2250Lys
ENST00000560720.1:n.35G>A
ENST00000674301.1:c.1852G>A	ENSP00000501333.1:n.1852G>A
ENST00000674301.2:c.*199G>A	ENSP00000501333.2:n.*199G>A
ENST00000682170.1:n.357G>A