Canonical Allele Identifier: CA392323232

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415690A>C , CM000677.2:g.48415690A>C	GRCh38
NC_000015.9:g.48707887A>C , CM000677.1:g.48707887A>C	GRCh37
NC_000015.8:g.46495179A>C	NCBI36
NG_008805.2:g.235099T>G , LRG_778:g.235099T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7897T>G MANE Select	NP_000129.3:p.Cys2633Gly
ENST00000316623.10:c.7897T>G MANE Select	ENSP00000325527.5:p.Cys2633Gly
NM_000138.4:c.7897T>G , LRG_778t1:c.7897T>G	NP_000129.3:p.Cys2633Gly
ENST00000316623.9:c.7897T>G	ENSP00000325527.5:p.Cys2633Gly
ENST00000559133.5:c.3266T>G
ENST00000559133.6:c.*705T>G	ENSP00000453958.2:n.*705T>G
ENST00000561429.1:n.152T>G
ENST00000674301.1:c.3063T>G	ENSP00000501333.1:n.3063T>G
ENST00000674301.2:c.*1410T>G	ENSP00000501333.2:n.*1410T>G
ENST00000682158.1:n.1278T>G
ENST00000682170.1:n.2078T>G
ENST00000682767.1:n.1194T>G