Canonical Allele Identifier: CA16614668
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406359
dbSNP Id: rs1060501086

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503918C>T , CM000677.2:g.48503918C>T GRCh38
NC_000015.9:g.48796115C>T , CM000677.1:g.48796115C>T GRCh37
NC_000015.8:g.46583407C>T NCBI36
NG_008805.2:g.146871G>A , LRG_778:g.146871G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1982G>A ENSP00000453958.2:p.Cys661Tyr
ENST00000674301.2:c.1982G>A ENSP00000501333.2:p.Cys661Tyr
ENST00000684448.1:n.656G>A
ENST00000316623.10:c.1982G>A MANE Select ENSP00000325527.5:p.Cys661Tyr
ENST00000316623.9:c.1982G>A ENSP00000325527.5:p.Cys661Tyr
ENST00000537463.6:c.637-29268G>A ENSP00000440294.2:n.637-29268G>A
NM_000138.4:c.1982G>A , LRG_778t1:c.1982G>A NP_000129.3:p.Cys661Tyr
NM_000138.5:c.1982G>A MANE Select NP_000129.3:p.Cys661Tyr