Canonical Allele Identifier: CA490022755
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48737688A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445491A>G , CM000677.2:g.48445491A>G GRCh38
NC_000015.9:g.48737688A>G , CM000677.1:g.48737688A>G GRCh37
NC_000015.8:g.46524980A>G NCBI36
NG_008805.2:g.205298T>C , LRG_778:g.205298T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5802T>C ENSP00000453958.2:p.Cys1934=
ENST00000674301.2:c.5802T>C ENSP00000501333.2:p.Cys1934=
ENST00000684448.1:n.4476T>C
ENST00000316623.10:c.5802T>C MANE Select ENSP00000325527.5:p.Cys1934=
ENST00000674301.1:c.801T>C ENSP00000501333.1:p.Cys267=
ENST00000316623.9:c.5802T>C ENSP00000325527.5:p.Cys1934=
ENST00000537463.6:c.*1565T>C ENSP00000440294.2:n.*1565T>C
ENST00000559133.5:c.1109T>C
NM_000138.4:c.5802T>C , LRG_778t1:c.5802T>C NP_000129.3:p.Cys1934=
NM_000138.5:c.5802T>C MANE Select NP_000129.3:p.Cys1934=
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