Canonical Allele Identifier: CA392328061
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425483C>A , CM000677.2:g.48425483C>A GRCh38
NC_000015.9:g.48717680C>A , CM000677.1:g.48717680C>A GRCh37
NC_000015.8:g.46504972C>A NCBI36
NG_008805.2:g.225306G>T , LRG_778:g.225306G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*147G>T ENSP00000453958.2:n.*147G>T
ENST00000674301.2:c.*852G>T ENSP00000501333.2:n.*852G>T
ENST00000682170.1:n.1520G>T
ENST00000682767.1:n.636G>T
ENST00000316623.10:c.7339G>T MANE Select ENSP00000325527.5:p.Glu2447Ter
ENST00000674301.1:c.2505G>T ENSP00000501333.1:n.2505G>T
ENST00000316623.9:c.7339G>T ENSP00000325527.5:p.Glu2447Ter
ENST00000559133.5:c.2708G>T
NM_000138.4:c.7339G>T , LRG_778t1:c.7339G>T NP_000129.3:p.Glu2447Ter
NM_000138.5:c.7339G>T MANE Select NP_000129.3:p.Glu2447Ter
Search 100 bp 5'
Search 100 bp 3'