Canonical Allele Identifier: CA2175516935

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48464998A= , CM000677.2:g.48464998A=	GRCh38
NC_000015.9:g.48757195A= , CM000677.1:g.48757195A=	GRCh37
NC_000015.8:g.46544487A=	NCBI36
NG_008805.2:g.185791T= , LRG_778:g.185791T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.4942+570T= MANE Select	NP_000129.3:n.4942+570T=
ENST00000316623.10:c.4942+570T= MANE Select	ENSP00000325527.5:n.4942+570T=
NM_000138.4:c.4942+570T= , LRG_778t1:c.4942+570T=	NP_000129.3:n.4942+570T=
ENST00000316623.9:c.4942+570T=	ENSP00000325527.5:n.4942+570T=
ENST00000537463.6:c.*705+570T=	ENSP00000440294.2:n.*705+570T=
ENST00000559133.5:c.249+570T=
ENST00000559133.6:c.4942+570T=	ENSP00000453958.2:n.4942+570T=
ENST00000674301.2:c.4942+570T=	ENSP00000501333.2:n.4942+570T=
ENST00000684448.1:n.3616+570T=