Canonical Allele Identifier: CA2175495821
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474531T= , CM000677.2:g.48474531T= GRCh38
NC_000015.9:g.48766728T= , CM000677.1:g.48766728T= GRCh37
NC_000015.8:g.46554020T= NCBI36
NG_008805.2:g.176258A= , LRG_778:g.176258A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4084A= ENSP00000453958.2:p.Thr1362=
ENST00000674301.2:c.4084A= ENSP00000501333.2:p.Thr1362=
ENST00000684448.1:n.2758A=
ENST00000316623.10:c.4084A= MANE Select ENSP00000325527.5:p.Thr1362=
ENST00000316623.9:c.4084A= ENSP00000325527.5:p.Thr1362=
ENST00000537463.6:c.756A= ENSP00000440294.2:p.Ala252=
NM_000138.4:c.4084A= , LRG_778t1:c.4084A= NP_000129.3:p.Thr1362=
NM_000138.5:c.4084A= MANE Select NP_000129.3:p.Thr1362=