Canonical Allele Identifier: CA392347866
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520787A>T , CM000677.2:g.48520787A>T GRCh38
NC_000015.9:g.48812984A>T , CM000677.1:g.48812984A>T GRCh37
NC_000015.8:g.46600276A>T NCBI36
NG_008805.2:g.130002T>A , LRG_778:g.130002T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1019T>A ENSP00000453958.2:p.Leu340Gln
ENST00000674301.2:c.1019T>A ENSP00000501333.2:p.Leu340Gln
ENST00000316623.10:c.1019T>A MANE Select ENSP00000325527.5:p.Leu340Gln
ENST00000316623.9:c.1019T>A ENSP00000325527.5:p.Leu340Gln
ENST00000537463.6:c.636+16924T>A ENSP00000440294.2:n.636+16924T>A
NM_000138.4:c.1019T>A , LRG_778t1:c.1019T>A NP_000129.3:p.Leu340Gln
NM_000138.5:c.1019T>A MANE Select NP_000129.3:p.Leu340Gln