Canonical Allele Identifier: CA10587802
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48428459C>T
GRCh37 chr15:g.48720656C>T
Revel Score:
ENST00000316623 (MANE Select) 0.976
ENST00000389087 0.976
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428459C>T , CM000677.2:g.48428459C>T GRCh38
NC_000015.9:g.48720656C>T , CM000677.1:g.48720656C>T GRCh37
NC_000015.8:g.46507948C>T NCBI36
NG_008805.2:g.222330G>A , LRG_778:g.222330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6884G>A ENSP00000453958.2:p.Cys2295Tyr
ENST00000674301.2:c.*335G>A ENSP00000501333.2:n.*335G>A
ENST00000682170.1:n.493G>A
ENST00000682767.1:n.119G>A
ENST00000316623.10:c.6884G>A MANE Select ENSP00000325527.5:p.Cys2295Tyr
ENST00000674301.1:c.1988G>A ENSP00000501333.1:n.1988G>A
ENST00000316623.9:c.6884G>A ENSP00000325527.5:p.Cys2295Tyr
ENST00000559133.5:c.2191G>A
ENST00000560720.1:n.171G>A
NM_000138.4:c.6884G>A , LRG_778t1:c.6884G>A NP_000129.3:p.Cys2295Tyr
NM_000138.5:c.6884G>A MANE Select NP_000129.3:p.Cys2295Tyr
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