Canonical Allele Identifier: CA2175515126
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487458T= , CM000677.2:g.48487458T= GRCh38
NC_000015.9:g.48779655T= , CM000677.1:g.48779655T= GRCh37
NC_000015.8:g.46566947T= NCBI36
NG_008805.2:g.163331A= , LRG_778:g.163331A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3338-21A= ENSP00000453958.2:n.3338-21A=
ENST00000674301.2:c.3338-21A= ENSP00000501333.2:n.3338-21A=
ENST00000684448.1:n.2012-21A=
ENST00000316623.10:c.3338-21A= MANE Select ENSP00000325527.5:n.3338-21A=
ENST00000316623.9:c.3338-21A= ENSP00000325527.5:n.3338-21A=
ENST00000537463.6:c.637-12808A= ENSP00000440294.2:n.637-12808A=
NM_000138.4:c.3338-21A= , LRG_778t1:c.3338-21A= NP_000129.3:n.3338-21A=
NM_000138.5:c.3338-21A= MANE Select NP_000129.3:n.3338-21A=
Search 100 bp 5'
Search 100 bp 3'