Canonical Allele Identifier: CA392327798

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425424G>C , CM000677.2:g.48425424G>C	GRCh38
NC_000015.9:g.48717621G>C , CM000677.1:g.48717621G>C	GRCh37
NC_000015.8:g.46504913G>C	NCBI36
NG_008805.2:g.225365C>G , LRG_778:g.225365C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7398C>G MANE Select	NP_000129.3:p.Tyr2466Ter
ENST00000316623.10:c.7398C>G MANE Select	ENSP00000325527.5:p.Tyr2466Ter
NM_000138.4:c.7398C>G , LRG_778t1:c.7398C>G	NP_000129.3:p.Tyr2466Ter
ENST00000316623.9:c.7398C>G	ENSP00000325527.5:p.Tyr2466Ter
ENST00000559133.5:c.2767C>G
ENST00000559133.6:c.*206C>G	ENSP00000453958.2:n.*206C>G
ENST00000674301.1:c.2564C>G	ENSP00000501333.1:n.2564C>G
ENST00000674301.2:c.*911C>G	ENSP00000501333.2:n.*911C>G
ENST00000682170.1:n.1579C>G
ENST00000682767.1:n.695C>G