Canonical Allele Identifier: CA053175
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416068
dbSNP Id: rs776199613

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468507G>A , CM000677.2:g.48468507G>A GRCh38
NC_000015.9:g.48760704G>A , CM000677.1:g.48760704G>A GRCh37
NC_000015.8:g.46547996G>A NCBI36
NG_008805.2:g.182282C>T , LRG_778:g.182282C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4487C>T ENSP00000453958.2:p.Thr1496Met
ENST00000674301.2:c.4487C>T ENSP00000501333.2:p.Thr1496Met
ENST00000684448.1:n.3161C>T
ENST00000316623.10:c.4487C>T MANE Select ENSP00000325527.5:p.Thr1496Met
ENST00000316623.9:c.4487C>T ENSP00000325527.5:p.Thr1496Met
ENST00000537463.6:c.*250C>T ENSP00000440294.2:n.*250C>T
NM_000138.4:c.4487C>T , LRG_778t1:c.4487C>T NP_000129.3:p.Thr1496Met
NM_000138.5:c.4487C>T MANE Select NP_000129.3:p.Thr1496Met