Canonical Allele Identifier: CA392337932
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1452793240

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441729C>T , CM000677.2:g.48441729C>T GRCh38
NC_000015.9:g.48733926C>T , CM000677.1:g.48733926C>T GRCh37
NC_000015.8:g.46521218C>T NCBI36
NG_008805.2:g.209060G>A , LRG_778:g.209060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6155G>A ENSP00000453958.2:p.Arg2052Lys
ENST00000674301.2:c.6155G>A ENSP00000501333.2:p.Arg2052Lys
ENST00000316623.10:c.6155G>A MANE Select ENSP00000325527.5:p.Arg2052Lys
ENST00000674301.1:c.1154G>A ENSP00000501333.1:p.Arg385Lys
ENST00000316623.9:c.6155G>A ENSP00000325527.5:p.Arg2052Lys
ENST00000537463.6:c.*1918G>A ENSP00000440294.2:n.*1918G>A
ENST00000559133.5:c.1462G>A
ENST00000560820.1:n.275G>A
NM_000138.4:c.6155G>A , LRG_778t1:c.6155G>A NP_000129.3:p.Arg2052Lys
NM_000138.5:c.6155G>A MANE Select NP_000129.3:p.Arg2052Lys