Canonical Allele Identifier: CA392344501

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452685C>G , CM000677.2:g.48452685C>G	GRCh38
NC_000015.9:g.48744882C>G , CM000677.1:g.48744882C>G	GRCh37
NC_000015.8:g.46532174C>G	NCBI36
NG_008805.2:g.198104G>C , LRG_778:g.198104G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5423-1G>C MANE Select	NP_000129.3:n.5423-1G>C
ENST00000316623.10:c.5423-1G>C MANE Select	ENSP00000325527.5:n.5423-1G>C
NM_000138.4:c.5423-1G>C , LRG_778t1:c.5423-1G>C	NP_000129.3:n.5423-1G>C
ENST00000316623.9:c.5423-1G>C	ENSP00000325527.5:n.5423-1G>C
ENST00000537463.6:c.*1186-1G>C	ENSP00000440294.2:n.*1186-1G>C
ENST00000559133.5:c.730-1G>C
ENST00000559133.6:c.5423-1G>C	ENSP00000453958.2:n.5423-1G>C
ENST00000674301.1:c.422-1G>C	ENSP00000501333.1:n.422-1G>C
ENST00000674301.2:c.5423-1G>C	ENSP00000501333.2:n.5423-1G>C
ENST00000684448.1:n.4097-1G>C