Canonical Allele Identifier: CA016208
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161245
dbSNP Id: rs201309310

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48644711T>C , CM000677.2:g.48644711T>C GRCh38
NC_000015.9:g.48936908T>C , CM000677.1:g.48936908T>C GRCh37
NC_000015.8:g.46724200T>C NCBI36
NG_008805.2:g.6078A>G , LRG_778:g.6078A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.59A>G ENSP00000453958.2:p.Tyr20Cys
ENST00000674301.2:c.59A>G ENSP00000501333.2:p.Tyr20Cys
ENST00000316623.10:c.59A>G MANE Select ENSP00000325527.5:p.Tyr20Cys
ENST00000316623.9:c.59A>G ENSP00000325527.5:p.Tyr20Cys
ENST00000537463.6:c.59A>G ENSP00000440294.2:p.Tyr20Cys
ENST00000558230.1:n.122A>G
ENST00000560355.1:c.59A>G ENSP00000453901.1:p.Tyr20Cys
NM_000138.4:c.59A>G , LRG_778t1:c.59A>G NP_000129.3:p.Tyr20Cys
NM_000138.5:c.59A>G MANE Select NP_000129.3:p.Tyr20Cys