Canonical Allele Identifier: CA392329823

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427672C>G , CM000677.2:g.48427672C>G	GRCh38
NC_000015.9:g.48719869C>G , CM000677.1:g.48719869C>G	GRCh37
NC_000015.8:g.46507161C>G	NCBI36
NG_008805.2:g.223117G>C , LRG_778:g.223117G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7161G>C	ENSP00000453958.2:p.Thr2387=
ENST00000674301.2:c.*612G>C	ENSP00000501333.2:n.*612G>C
ENST00000682170.1:n.1280G>C
ENST00000682767.1:n.396G>C
ENST00000316623.10:c.7099G>C MANE Select	ENSP00000325527.5:p.Gly2367Arg
ENST00000674301.1:c.2265G>C	ENSP00000501333.1:n.2265G>C
ENST00000316623.9:c.7099G>C	ENSP00000325527.5:p.Gly2367Arg
ENST00000559133.5:c.2468G>C
NM_000138.4:c.7099G>C , LRG_778t1:c.7099G>C	NP_000129.3:p.Gly2367Arg
NM_000138.5:c.7099G>C MANE Select	NP_000129.3:p.Gly2367Arg