Canonical Allele Identifier: CA392325874
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421973G>T , CM000677.2:g.48421973G>T GRCh38
NC_000015.9:g.48714170G>T , CM000677.1:g.48714170G>T GRCh37
NC_000015.8:g.46501462G>T NCBI36
NG_008805.2:g.228816C>A , LRG_778:g.228816C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*357C>A ENSP00000453958.2:n.*357C>A
ENST00000674301.2:c.*1062C>A ENSP00000501333.2:n.*1062C>A
ENST00000682170.1:n.1730C>A
ENST00000682767.1:n.846C>A
ENST00000316623.10:c.7549C>A MANE Select ENSP00000325527.5:p.Gln2517Lys
ENST00000674301.1:c.2715C>A ENSP00000501333.1:n.2715C>A
ENST00000316623.9:c.7549C>A ENSP00000325527.5:p.Gln2517Lys
ENST00000559133.5:c.2918C>A
NM_000138.4:c.7549C>A , LRG_778t1:c.7549C>A NP_000129.3:p.Gln2517Lys
NM_000138.5:c.7549C>A MANE Select NP_000129.3:p.Gln2517Lys