Canonical Allele Identifier: CA2999005597

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446621A>G , CM000677.2:g.48446621A>G	GRCh38
NC_000015.9:g.48738818A>G , CM000677.1:g.48738818A>G	GRCh37
NC_000015.8:g.46526110A>G	NCBI36
NG_008805.2:g.204168T>C , LRG_778:g.204168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5788+85T>C	ENSP00000453958.2:n.5788+85T>C
ENST00000674301.2:c.5788+85T>C	ENSP00000501333.2:n.5788+85T>C
ENST00000684448.1:n.4462+85T>C
ENST00000316623.10:c.5788+85T>C MANE Select	ENSP00000325527.5:n.5788+85T>C
ENST00000674301.1:c.787+85T>C	ENSP00000501333.1:n.787+85T>C
ENST00000316623.9:c.5788+85T>C	ENSP00000325527.5:n.5788+85T>C
ENST00000537463.6:c.*1551+85T>C	ENSP00000440294.2:n.*1551+85T>C
ENST00000559133.5:c.1095+85T>C
NM_000138.4:c.5788+85T>C , LRG_778t1:c.5788+85T>C	NP_000129.3:n.5788+85T>C
NM_000138.5:c.5788+85T>C MANE Select	NP_000129.3:n.5788+85T>C