Canonical Allele Identifier: CA392336648
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 633211
ClinVar RCV Id: RCV000781363 RCV001070500
dbSNP Id: rs1555395206
MyVariant Identifiers: chr15:g.48729244C>T (hg19) chr15:g.48437047C>T (hg38)
ERepo: CA392336648/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48437047C>T , CM000677.2:g.48437047C>T GRCh38
NC_000015.9:g.48729244C>T , CM000677.1:g.48729244C>T GRCh37
NC_000015.8:g.46516536C>T NCBI36
NG_008805.2:g.213742G>A , LRG_778:g.213742G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6410G>A ENSP00000453958.2:p.Cys2137Tyr
ENST00000674301.2:c.6410G>A ENSP00000501333.2:p.Cys2137Tyr
ENST00000682170.1:n.19G>A
ENST00000316623.10:c.6410G>A MANE Select ENSP00000325527.5:p.Cys2137Tyr
ENST00000674301.1:c.1409G>A ENSP00000501333.1:p.Cys470Tyr
ENST00000316623.9:c.6410G>A ENSP00000325527.5:p.Cys2137Tyr
ENST00000537463.6:c.*2173G>A ENSP00000440294.2:n.*2173G>A
ENST00000559133.5:c.1717G>A
NM_000138.4:c.6410G>A , LRG_778t1:c.6410G>A NP_000129.3:p.Cys2137Tyr
NM_000138.5:c.6410G>A MANE Select NP_000129.3:p.Cys2137Tyr
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