Canonical Allele Identifier: CA392339976
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48737600C>G (hg19) chr15:g.48445403C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445403C>G , CM000677.2:g.48445403C>G GRCh38
NC_000015.9:g.48737600C>G , CM000677.1:g.48737600C>G GRCh37
NC_000015.8:g.46524892C>G NCBI36
NG_008805.2:g.205386G>C , LRG_778:g.205386G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5890G>C ENSP00000453958.2:p.Val1964Leu
ENST00000674301.2:c.5890G>C ENSP00000501333.2:p.Val1964Leu
ENST00000684448.1:n.4564G>C
ENST00000316623.10:c.5890G>C MANE Select ENSP00000325527.5:p.Val1964Leu
ENST00000674301.1:c.889G>C ENSP00000501333.1:p.Val297Leu
ENST00000316623.9:c.5890G>C ENSP00000325527.5:p.Val1964Leu
ENST00000537463.6:c.*1653G>C ENSP00000440294.2:n.*1653G>C
ENST00000559133.5:c.1197G>C
ENST00000560820.1:n.10G>C
NM_000138.4:c.5890G>C , LRG_778t1:c.5890G>C NP_000129.3:p.Val1964Leu
NM_000138.5:c.5890G>C MANE Select NP_000129.3:p.Val1964Leu
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