Canonical Allele Identifier: CA392340299
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1699624
ClinVar RCV Id: RCV002273481
dbSNP Id: rs2141321536

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48508620G>A , CM000677.2:g.48508620G>A GRCh38
NC_000015.9:g.48800817G>A , CM000677.1:g.48800817G>A GRCh37
NC_000015.8:g.46588109G>A NCBI36
NG_008805.2:g.142169C>T , LRG_778:g.142169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1799C>T ENSP00000453958.2:p.Pro600Leu
ENST00000674301.2:c.1799C>T ENSP00000501333.2:p.Pro600Leu
ENST00000684448.1:n.473C>T
ENST00000316623.10:c.1799C>T MANE Select ENSP00000325527.5:p.Pro600Leu
ENST00000316623.9:c.1799C>T ENSP00000325527.5:p.Pro600Leu
ENST00000537463.6:c.636+29091C>T ENSP00000440294.2:n.636+29091C>T
NM_000138.4:c.1799C>T , LRG_778t1:c.1799C>T NP_000129.3:p.Pro600Leu
NM_000138.5:c.1799C>T MANE Select NP_000129.3:p.Pro600Leu