Canonical Allele Identifier: CA059493
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs751949161

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415505T>A , CM000677.2:g.48415505T>A GRCh38
NC_000015.9:g.48707702T>A , CM000677.1:g.48707702T>A GRCh37
NC_000015.8:g.46494994T>A NCBI36
NG_008805.2:g.235284A>T , LRG_778:g.235284A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*859+31A>T ENSP00000453958.2:n.*859+31A>T
ENST00000674301.2:c.*1564+31A>T ENSP00000501333.2:n.*1564+31A>T
ENST00000682158.1:n.1432+31A>T
ENST00000682170.1:n.2232+31A>T
ENST00000682767.1:n.1348+31A>T
ENST00000316623.10:c.8051+31A>T MANE Select ENSP00000325527.5:n.8051+31A>T
ENST00000674301.1:c.3217+31A>T ENSP00000501333.1:n.3217+31A>T
ENST00000316623.9:c.8051+31A>T ENSP00000325527.5:n.8051+31A>T
ENST00000559133.5:c.3420+31A>T
ENST00000561429.1:n.306+31A>T
NM_000138.4:c.8051+31A>T , LRG_778t1:c.8051+31A>T NP_000129.3:n.8051+31A>T
NM_000138.5:c.8051+31A>T MANE Select NP_000129.3:n.8051+31A>T