Canonical Allele Identifier: CA012160
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16466
ClinVar RCV Id: RCV000017930 RCV000809693 RCV000150705 RCV000663457 RCV002390114
dbSNP Id: rs137854485
MyVariant Identifiers: chr15:g.48807599G>A (hg19) chr15:g.48515402G>A (hg38)
ERepo: CA012160/MONDO:0007947/022
PubMed: PMID:17568394
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48515402G>A , CM000677.2:g.48515402G>A GRCh38
NC_000015.9:g.48807599G>A , CM000677.1:g.48807599G>A GRCh37
NC_000015.8:g.46594891G>A NCBI36
NG_008805.2:g.135387C>T , LRG_778:g.135387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1453C>T ENSP00000453958.2:p.Arg485Cys
ENST00000674301.2:c.1453C>T ENSP00000501333.2:p.Arg485Cys
ENST00000684448.1:n.127C>T
ENST00000316623.10:c.1453C>T MANE Select ENSP00000325527.5:p.Arg485Cys
ENST00000316623.9:c.1453C>T ENSP00000325527.5:p.Arg485Cys
ENST00000537463.6:c.636+22309C>T ENSP00000440294.2:n.636+22309C>T
NM_000138.4:c.1453C>T , LRG_778t1:c.1453C>T NP_000129.3:p.Arg485Cys
NM_000138.5:c.1453C>T MANE Select NP_000129.3:p.Arg485Cys
Search 100 bp 5'
Search 100 bp 3'