Canonical Allele Identifier: CA2175492890
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445502C= , CM000677.2:g.48445502C= GRCh38
NC_000015.9:g.48737699C= , CM000677.1:g.48737699C= GRCh37
NC_000015.8:g.46524991C= NCBI36
NG_008805.2:g.205287G= , LRG_778:g.205287G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5791G= ENSP00000453958.2:p.Val1931=
ENST00000674301.2:c.5791G= ENSP00000501333.2:p.Val1931=
ENST00000684448.1:n.4465G=
ENST00000316623.10:c.5791G= MANE Select ENSP00000325527.5:p.Val1931=
ENST00000674301.1:c.790G= ENSP00000501333.1:p.Val264=
ENST00000316623.9:c.5791G= ENSP00000325527.5:p.Val1931=
ENST00000537463.6:c.*1554G= ENSP00000440294.2:n.*1554G=
ENST00000559133.5:c.1098G=
NM_000138.4:c.5791G= , LRG_778t1:c.5791G= NP_000129.3:p.Val1931=
NM_000138.5:c.5791G= MANE Select NP_000129.3:p.Val1931=
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