Canonical Allele Identifier: CA392329038
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527177
dbSNP Id: rs397515784

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489921G>T , CM000677.2:g.48489921G>T GRCh38
NC_000015.9:g.48782118G>T , CM000677.1:g.48782118G>T GRCh37
NC_000015.8:g.46569410G>T NCBI36
NG_008805.2:g.160868C>A , LRG_778:g.160868C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3012C>A ENSP00000453958.2:p.Tyr1004Ter
ENST00000674301.2:c.3012C>A ENSP00000501333.2:p.Tyr1004Ter
ENST00000684448.1:n.1686C>A
ENST00000316623.10:c.3012C>A MANE Select ENSP00000325527.5:p.Tyr1004Ter
ENST00000316623.9:c.3012C>A ENSP00000325527.5:p.Tyr1004Ter
ENST00000537463.6:c.637-15271C>A ENSP00000440294.2:n.637-15271C>A
NM_000138.4:c.3012C>A , LRG_778t1:c.3012C>A NP_000129.3:p.Tyr1004Ter
NM_000138.5:c.3012C>A MANE Select NP_000129.3:p.Tyr1004Ter