Canonical Allele Identifier: CA392332423

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430742T>G , CM000677.2:g.48430742T>G	GRCh38
NC_000015.9:g.48722939T>G , CM000677.1:g.48722939T>G	GRCh37
NC_000015.8:g.46510231T>G	NCBI36
NG_008805.2:g.220047A>C , LRG_778:g.220047A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6800A>C MANE Select	NP_000129.3:p.Asn2267Thr
ENST00000316623.10:c.6800A>C MANE Select	ENSP00000325527.5:p.Asn2267Thr
NM_000138.4:c.6800A>C , LRG_778t1:c.6800A>C	NP_000129.3:p.Asn2267Thr
ENST00000316623.9:c.6800A>C	ENSP00000325527.5:p.Asn2267Thr
ENST00000559133.5:c.2107A>C
ENST00000559133.6:c.6800A>C	ENSP00000453958.2:p.Asn2267Thr
ENST00000560720.1:n.87A>C
ENST00000674301.1:c.1904A>C	ENSP00000501333.1:n.1904A>C
ENST00000674301.2:c.*251A>C	ENSP00000501333.2:n.*251A>C
ENST00000682170.1:n.409A>C