Canonical Allele Identifier: CA2175518413
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468427G= , CM000677.2:g.48468427G= GRCh38
NC_000015.9:g.48760624G= , CM000677.1:g.48760624G= GRCh37
NC_000015.8:g.46547916G= NCBI36
NG_008805.2:g.182362C= , LRG_778:g.182362C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4567C= ENSP00000453958.2:p.Arg1523=
ENST00000674301.2:c.4567C= ENSP00000501333.2:p.Arg1523=
ENST00000684448.1:n.3241C=
ENST00000316623.10:c.4567C= MANE Select ENSP00000325527.5:p.Arg1523=
ENST00000316623.9:c.4567C= ENSP00000325527.5:p.Arg1523=
ENST00000537463.6:c.*330C= ENSP00000440294.2:n.*330C=
NM_000138.4:c.4567C= , LRG_778t1:c.4567C= NP_000129.3:p.Arg1523=
NM_000138.5:c.4567C= MANE Select NP_000129.3:p.Arg1523=