Canonical Allele Identifier: CA055888

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444640C>G , CM000677.2:g.48444640C>G	GRCh38
NC_000015.9:g.48736837C>G , CM000677.1:g.48736837C>G	GRCh37
NC_000015.8:g.46524129C>G	NCBI36
NG_008805.2:g.206149G>C , LRG_778:g.206149G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5938G>C MANE Select	NP_000129.3:p.Glu1980Gln
ENST00000316623.10:c.5938G>C MANE Select	ENSP00000325527.5:p.Glu1980Gln
NM_000138.4:c.5938G>C , LRG_778t1:c.5938G>C	NP_000129.3:p.Glu1980Gln
ENST00000316623.9:c.5938G>C	ENSP00000325527.5:p.Glu1980Gln
ENST00000537463.6:c.*1701G>C	ENSP00000440294.2:n.*1701G>C
ENST00000559133.5:c.1245G>C
ENST00000559133.6:c.5938G>C	ENSP00000453958.2:p.Glu1980Gln
ENST00000560820.1:n.58G>C
ENST00000674301.1:c.937G>C	ENSP00000501333.1:p.Glu313Gln
ENST00000674301.2:c.5938G>C	ENSP00000501333.2:p.Glu1980Gln
ENST00000684448.1:n.4612G>C