Canonical Allele Identifier: CA392337016

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437827C>G , CM000677.2:g.48437827C>G	GRCh38
NC_000015.9:g.48730024C>G , CM000677.1:g.48730024C>G	GRCh37
NC_000015.8:g.46517316C>G	NCBI36
NG_008805.2:g.212962G>C , LRG_778:g.212962G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6254G>C MANE Select	NP_000129.3:p.Cys2085Ser
ENST00000316623.10:c.6254G>C MANE Select	ENSP00000325527.5:p.Cys2085Ser
NM_000138.4:c.6254G>C , LRG_778t1:c.6254G>C	NP_000129.3:p.Cys2085Ser
ENST00000316623.9:c.6254G>C	ENSP00000325527.5:p.Cys2085Ser
ENST00000537463.6:c.*2017G>C	ENSP00000440294.2:n.*2017G>C
ENST00000559133.5:c.1561G>C
ENST00000559133.6:c.6254G>C	ENSP00000453958.2:p.Cys2085Ser
ENST00000560820.1:n.374G>C
ENST00000674301.1:c.1253G>C	ENSP00000501333.1:p.Cys418Ser
ENST00000674301.2:c.6254G>C	ENSP00000501333.2:p.Cys2085Ser