Canonical Allele Identifier: CA2804067581

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421808A>C , CM000677.2:g.48421808A>C	GRCh38
NC_000015.9:g.48714005A>C , CM000677.1:g.48714005A>C	GRCh37
NC_000015.8:g.46501297A>C	NCBI36
NG_008805.2:g.228981T>G , LRG_778:g.228981T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-122T>G	ENSP00000453958.2:n.*379-122T>G
ENST00000674301.2:c.*1084-122T>G	ENSP00000501333.2:n.*1084-122T>G
ENST00000682170.1:n.1752-122T>G
ENST00000682767.1:n.868-122T>G
ENST00000316623.10:c.7571-122T>G MANE Select	ENSP00000325527.5:n.7571-122T>G
ENST00000674301.1:c.2737-122T>G	ENSP00000501333.1:n.2737-122T>G
ENST00000316623.9:c.7571-122T>G	ENSP00000325527.5:n.7571-122T>G
ENST00000559133.5:c.2940-122T>G
NM_000138.4:c.7571-122T>G , LRG_778t1:c.7571-122T>G	NP_000129.3:n.7571-122T>G
NM_000138.5:c.7571-122T>G MANE Select	NP_000129.3:n.7571-122T>G