Canonical Allele Identifier: CA059277

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415745A>C , CM000677.2:g.48415745A>C	GRCh38
NC_000015.9:g.48707942A>C , CM000677.1:g.48707942A>C	GRCh37
NC_000015.8:g.46495234A>C	NCBI36
NG_008805.2:g.235044T>G , LRG_778:g.235044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*650T>G	ENSP00000453958.2:n.*650T>G
ENST00000674301.2:c.*1355T>G	ENSP00000501333.2:n.*1355T>G
ENST00000682158.1:n.1223T>G
ENST00000682170.1:n.2023T>G
ENST00000682767.1:n.1139T>G
ENST00000316623.10:c.7842T>G MANE Select	ENSP00000325527.5:p.Ala2614=
ENST00000674301.1:c.3008T>G	ENSP00000501333.1:n.3008T>G
ENST00000316623.9:c.7842T>G	ENSP00000325527.5:p.Ala2614=
ENST00000559133.5:c.3211T>G
ENST00000561429.1:n.97T>G
NM_000138.4:c.7842T>G , LRG_778t1:c.7842T>G	NP_000129.3:p.Ala2614=
NM_000138.5:c.7842T>G MANE Select	NP_000129.3:p.Ala2614=