Canonical Allele Identifier: CA658798370
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527156
ClinVar RCV Id: RCV000631927
dbSNP Id: rs1555398395

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485430dup , CM000677.2:g.48485430dup GRCh38
NC_000015.9:g.48777627dup , CM000677.1:g.48777627dup GRCh37
NC_000015.8:g.46564919dup NCBI36
NG_008805.2:g.165359dup , LRG_778:g.165359dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3656dup ENSP00000453958.2:p.Tyr1219Ter
ENST00000674301.2:c.3656dup ENSP00000501333.2:p.Tyr1219Ter
ENST00000684448.1:n.2330dup
ENST00000316623.10:c.3656dup MANE Select ENSP00000325527.5:p.Tyr1219Ter
ENST00000316623.9:c.3656dup ENSP00000325527.5:p.Tyr1219Ter
ENST00000537463.6:c.637-10780dup ENSP00000440294.2:n.637-10780dup
NM_000138.4:c.3656dup , LRG_778t1:c.3656dup NP_000129.3:p.Tyr1219Ter
NM_000138.5:c.3656dup MANE Select NP_000129.3:p.Tyr1219Ter