Canonical Allele Identifier: CA392337901
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527145
ClinVar RCV Id: RCV000631911
dbSNP Id: rs363805

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441726C>T , CM000677.2:g.48441726C>T GRCh38
NC_000015.9:g.48733923C>T , CM000677.1:g.48733923C>T GRCh37
NC_000015.8:g.46521215C>T NCBI36
NG_008805.2:g.209063G>A , LRG_778:g.209063G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6158G>A ENSP00000453958.2:p.Cys2053Tyr
ENST00000674301.2:c.6158G>A ENSP00000501333.2:p.Cys2053Tyr
ENST00000316623.10:c.6158G>A MANE Select ENSP00000325527.5:p.Cys2053Tyr
ENST00000674301.1:c.1157G>A ENSP00000501333.1:p.Cys386Tyr
ENST00000316623.9:c.6158G>A ENSP00000325527.5:p.Cys2053Tyr
ENST00000537463.6:c.*1921G>A ENSP00000440294.2:n.*1921G>A
ENST00000559133.5:c.1465G>A
ENST00000560820.1:n.278G>A
NM_000138.4:c.6158G>A , LRG_778t1:c.6158G>A NP_000129.3:p.Cys2053Tyr
NM_000138.5:c.6158G>A MANE Select NP_000129.3:p.Cys2053Tyr