Canonical Allele Identifier: CA017173

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425443T>C , CM000677.2:g.48425443T>C	GRCh38
NC_000015.9:g.48717640T>C , CM000677.1:g.48717640T>C	GRCh37
NC_000015.8:g.46504932T>C	NCBI36
NG_008805.2:g.225346A>G , LRG_778:g.225346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*187A>G	ENSP00000453958.2:n.*187A>G
ENST00000674301.2:c.*892A>G	ENSP00000501333.2:n.*892A>G
ENST00000682170.1:n.1560A>G
ENST00000682767.1:n.676A>G
ENST00000316623.10:c.7379A>G MANE Select	ENSP00000325527.5:p.Lys2460Arg
ENST00000674301.1:c.2545A>G	ENSP00000501333.1:n.2545A>G
ENST00000316623.9:c.7379A>G	ENSP00000325527.5:p.Lys2460Arg
ENST00000559133.5:c.2748A>G
NM_000138.4:c.7379A>G , LRG_778t1:c.7379A>G	NP_000129.3:p.Lys2460Arg
NM_000138.5:c.7379A>G MANE Select	NP_000129.3:p.Lys2460Arg