Canonical Allele Identifier: CA392346034

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456690C>T , CM000677.2:g.48456690C>T	GRCh38
NC_000015.9:g.48748887C>T , CM000677.1:g.48748887C>T	GRCh37
NC_000015.8:g.46536179C>T	NCBI36
NG_008805.2:g.194099G>A , LRG_778:g.194099G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5369G>A MANE Select	NP_000129.3:p.Arg1790Gln
ENST00000316623.10:c.5369G>A MANE Select	ENSP00000325527.5:p.Arg1790Gln
NM_000138.4:c.5369G>A , LRG_778t1:c.5369G>A	NP_000129.3:p.Arg1790Gln
ENST00000316623.9:c.5369G>A	ENSP00000325527.5:p.Arg1790Gln
ENST00000537463.6:c.*1132G>A	ENSP00000440294.2:n.*1132G>A
ENST00000559133.5:c.676G>A
ENST00000559133.6:c.5369G>A	ENSP00000453958.2:p.Arg1790Gln
ENST00000674301.1:c.368G>A	ENSP00000501333.1:p.Arg123Gln
ENST00000674301.2:c.5369G>A	ENSP00000501333.2:p.Arg1790Gln
ENST00000684448.1:n.4043G>A