Canonical Allele Identifier: CA392342527

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448881C>G , CM000677.2:g.48448881C>G	GRCh38
NC_000015.9:g.48741078C>G , CM000677.1:g.48741078C>G	GRCh37
NC_000015.8:g.46528370C>G	NCBI36
NG_008805.2:g.201908G>C , LRG_778:g.201908G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5558G>C MANE Select	NP_000129.3:p.Cys1853Ser
ENST00000316623.10:c.5558G>C MANE Select	ENSP00000325527.5:p.Cys1853Ser
NM_000138.4:c.5558G>C , LRG_778t1:c.5558G>C	NP_000129.3:p.Cys1853Ser
ENST00000316623.9:c.5558G>C	ENSP00000325527.5:p.Cys1853Ser
ENST00000537463.6:c.*1321G>C	ENSP00000440294.2:n.*1321G>C
ENST00000559133.5:c.865G>C
ENST00000559133.6:c.5558G>C	ENSP00000453958.2:p.Cys1853Ser
ENST00000674301.1:c.557G>C	ENSP00000501333.1:p.Cys186Ser
ENST00000674301.2:c.5558G>C	ENSP00000501333.2:p.Cys1853Ser
ENST00000684448.1:n.4232G>C