Canonical Allele Identifier: CA16607093

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456781T>C , CM000677.2:g.48456781T>C	GRCh38
NC_000015.9:g.48748978T>C , CM000677.1:g.48748978T>C	GRCh37
NC_000015.8:g.46536270T>C	NCBI36
NG_008805.2:g.194008A>G , LRG_778:g.194008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5297-19A>G	ENSP00000453958.2:n.5297-19A>G
ENST00000674301.2:c.5297-19A>G	ENSP00000501333.2:n.5297-19A>G
ENST00000684448.1:n.3971-19A>G
ENST00000316623.10:c.5297-19A>G MANE Select	ENSP00000325527.5:n.5297-19A>G
ENST00000674301.1:c.296-19A>G	ENSP00000501333.1:n.296-19A>G
ENST00000316623.9:c.5297-19A>G	ENSP00000325527.5:n.5297-19A>G
ENST00000537463.6:c.*1060-19A>G	ENSP00000440294.2:n.*1060-19A>G
ENST00000559133.5:c.604-19A>G
NM_000138.4:c.5297-19A>G , LRG_778t1:c.5297-19A>G	NP_000129.3:n.5297-19A>G
NM_000138.5:c.5297-19A>G MANE Select	NP_000129.3:n.5297-19A>G