Canonical Allele Identifier: CA2175492368
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445394C= , CM000677.2:g.48445394C= GRCh38
NC_000015.9:g.48737591C= , CM000677.1:g.48737591C= GRCh37
NC_000015.8:g.46524883C= NCBI36
NG_008805.2:g.205395G= , LRG_778:g.205395G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5899G= ENSP00000453958.2:p.Asp1967=
ENST00000674301.2:c.5899G= ENSP00000501333.2:p.Asp1967=
ENST00000684448.1:n.4573G=
ENST00000316623.10:c.5899G= MANE Select ENSP00000325527.5:p.Asp1967=
ENST00000674301.1:c.898G= ENSP00000501333.1:p.Asp300=
ENST00000316623.9:c.5899G= ENSP00000325527.5:p.Asp1967=
ENST00000537463.6:c.*1662G= ENSP00000440294.2:n.*1662G=
ENST00000559133.5:c.1206G=
ENST00000560820.1:n.19G=
NM_000138.4:c.5899G= , LRG_778t1:c.5899G= NP_000129.3:p.Asp1967=
NM_000138.5:c.5899G= MANE Select NP_000129.3:p.Asp1967=
Search 100 bp 5'
Search 100 bp 3'