Canonical Allele Identifier: CA2175492489
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445429T= , CM000677.2:g.48445429T= GRCh38
NC_000015.9:g.48737626T= , CM000677.1:g.48737626T= GRCh37
NC_000015.8:g.46524918T= NCBI36
NG_008805.2:g.205360A= , LRG_778:g.205360A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5864A= ENSP00000453958.2:p.Gln1955=
ENST00000674301.2:c.5864A= ENSP00000501333.2:p.Gln1955=
ENST00000684448.1:n.4538A=
ENST00000316623.10:c.5864A= MANE Select ENSP00000325527.5:p.Gln1955=
ENST00000674301.1:c.863A= ENSP00000501333.1:p.Gln288=
ENST00000316623.9:c.5864A= ENSP00000325527.5:p.Gln1955=
ENST00000537463.6:c.*1627A= ENSP00000440294.2:n.*1627A=
ENST00000559133.5:c.1171A=
NM_000138.4:c.5864A= , LRG_778t1:c.5864A= NP_000129.3:p.Gln1955=
NM_000138.5:c.5864A= MANE Select NP_000129.3:p.Gln1955=
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