Canonical Allele Identifier: CA2175486033
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410883T= , CM000677.2:g.48410883T= GRCh38
NC_000015.9:g.48703080T= , CM000677.1:g.48703080T= GRCh37
NC_000015.8:g.46490372T= NCBI36
NG_008805.2:g.239906A= , LRG_778:g.239906A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1531A= ENSP00000453958.2:n.*1531A=
ENST00000682158.1:n.2104A=
ENST00000682170.1:n.2904A=
ENST00000682767.1:n.2020A=
ENST00000316623.10:c.*107A= MANE Select ENSP00000325527.5:n.*107A=
ENST00000316623.9:c.*107A= ENSP00000325527.5:n.*107A=
ENST00000559133.5:c.4092A=
NM_000138.4:c.*107A= , LRG_778t1:c.*107A= NP_000129.3:n.*107A=
NM_000138.5:c.*107A= MANE Select NP_000129.3:n.*107A=
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