Canonical Allele Identifier: CA392323052
Community Standard Title: NM_000138.5(FBN1):c.7938C>A (p.Cys2646Ter)
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415649G>T , CM000677.2:g.48415649G>T GRCh38
NC_000015.9:g.48707846G>T , CM000677.1:g.48707846G>T GRCh37
NC_000015.8:g.46495138G>T NCBI36
NG_008805.2:g.235140C>A , LRG_778:g.235140C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.7938C>A MANE Select NP_000129.3:p.Cys2646Ter
ENST00000316623.10:c.7938C>A MANE Select ENSP00000325527.5:p.Cys2646Ter
NM_000138.4:c.7938C>A , LRG_778t1:c.7938C>A NP_000129.3:p.Cys2646Ter
ENST00000316623.9:c.7938C>A ENSP00000325527.5:p.Cys2646Ter
ENST00000559133.5:c.3307C>A
ENST00000559133.6:c.*746C>A ENSP00000453958.2:n.*746C>A
ENST00000561429.1:n.193C>A
ENST00000674301.1:c.3104C>A ENSP00000501333.1:n.3104C>A
ENST00000674301.2:c.*1451C>A ENSP00000501333.2:n.*1451C>A
ENST00000682158.1:n.1319C>A
ENST00000682170.1:n.2119C>A
ENST00000682767.1:n.1235C>A
Search 100 bp 5'
Search 100 bp 3'