Canonical Allele Identifier: CA2175496712
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48434537C= , CM000677.2:g.48434537C= GRCh38
NC_000015.9:g.48726734C= , CM000677.1:g.48726734C= GRCh37
NC_000015.8:g.46514026C= NCBI36
NG_008805.2:g.216252G= , LRG_778:g.216252G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6616+57G= ENSP00000453958.2:n.6616+57G=
ENST00000674301.2:c.6616+57G= ENSP00000501333.2:n.6616+57G=
ENST00000682170.1:n.225+57G=
ENST00000316623.10:c.6616+57G= MANE Select ENSP00000325527.5:n.6616+57G=
ENST00000674301.1:c.1615+57G= ENSP00000501333.1:n.1615+57G=
ENST00000316623.9:c.6616+57G= ENSP00000325527.5:n.6616+57G=
ENST00000537463.6:c.*2379+57G= ENSP00000440294.2:n.*2379+57G=
ENST00000559133.5:c.1923+57G=
NM_000138.4:c.6616+57G= , LRG_778t1:c.6616+57G= NP_000129.3:n.6616+57G=
NM_000138.5:c.6616+57G= MANE Select NP_000129.3:n.6616+57G=
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