Canonical Allele Identifier: CA392331872

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430676C>G , CM000677.2:g.48430676C>G	GRCh38
NC_000015.9:g.48722873C>G , CM000677.1:g.48722873C>G	GRCh37
NC_000015.8:g.46510165C>G	NCBI36
NG_008805.2:g.220113G>C , LRG_778:g.220113G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6866G>C MANE Select	NP_000129.3:p.Cys2289Ser
ENST00000316623.10:c.6866G>C MANE Select	ENSP00000325527.5:p.Cys2289Ser
NM_000138.4:c.6866G>C , LRG_778t1:c.6866G>C	NP_000129.3:p.Cys2289Ser
ENST00000316623.9:c.6866G>C	ENSP00000325527.5:p.Cys2289Ser
ENST00000559133.5:c.2173G>C
ENST00000559133.6:c.6866G>C	ENSP00000453958.2:p.Cys2289Ser
ENST00000560720.1:n.153G>C
ENST00000674301.1:c.1970G>C	ENSP00000501333.1:n.1970G>C
ENST00000674301.2:c.*317G>C	ENSP00000501333.2:n.*317G>C
ENST00000682170.1:n.475G>C