Canonical Allele Identifier: CA2175573526
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48610771A= , CM000677.2:g.48610771A= GRCh38
NC_000015.9:g.48902968A= , CM000677.1:g.48902968A= GRCh37
NC_000015.8:g.46690260A= NCBI36
NG_008805.2:g.40018T= , LRG_778:g.40018T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.303T= ENSP00000453958.2:p.Thr101=
ENST00000674301.2:c.303T= ENSP00000501333.2:p.Thr101=
ENST00000316623.10:c.303T= MANE Select ENSP00000325527.5:p.Thr101=
ENST00000316623.9:c.303T= ENSP00000325527.5:p.Thr101=
ENST00000537463.6:c.303T= ENSP00000440294.2:p.Thr101=
NM_000138.4:c.303T= , LRG_778t1:c.303T= NP_000129.3:p.Thr101=
NM_000138.5:c.303T= MANE Select NP_000129.3:p.Thr101=