Canonical Allele Identifier: CA2533303990
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448755A>G , CM000677.2:g.48448755A>G GRCh38
NC_000015.9:g.48740952A>G , CM000677.1:g.48740952A>G GRCh37
NC_000015.8:g.46528244A>G NCBI36
NG_008805.2:g.202034T>C , LRG_778:g.202034T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5671+13T>C ENSP00000453958.2:n.5671+13T>C
ENST00000674301.2:c.5671+13T>C ENSP00000501333.2:n.5671+13T>C
ENST00000684448.1:n.4345+13T>C
ENST00000316623.10:c.5671+13T>C MANE Select ENSP00000325527.5:n.5671+13T>C
ENST00000674301.1:c.670+13T>C ENSP00000501333.1:n.670+13T>C
ENST00000316623.9:c.5671+13T>C ENSP00000325527.5:n.5671+13T>C
ENST00000537463.6:c.*1434+13T>C ENSP00000440294.2:n.*1434+13T>C
ENST00000559133.5:c.978+13T>C
NM_000138.4:c.5671+13T>C , LRG_778t1:c.5671+13T>C NP_000129.3:n.5671+13T>C
NM_000138.5:c.5671+13T>C MANE Select NP_000129.3:n.5671+13T>C
Search 100 bp 5'
Search 100 bp 3'