Canonical Allele Identifier: CA2175502499

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430712C= , CM000677.2:g.48430712C=	GRCh38
NC_000015.9:g.48722909C= , CM000677.1:g.48722909C=	GRCh37
NC_000015.8:g.46510201C=	NCBI36
NG_008805.2:g.220077G= , LRG_778:g.220077G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6830G=	ENSP00000453958.2:p.Gly2277=
ENST00000674301.2:c.*281G=	ENSP00000501333.2:n.*281G=
ENST00000682170.1:n.439G=
ENST00000316623.10:c.6830G= MANE Select	ENSP00000325527.5:p.Gly2277=
ENST00000674301.1:c.1934G=	ENSP00000501333.1:n.1934G=
ENST00000316623.9:c.6830G=	ENSP00000325527.5:p.Gly2277=
ENST00000559133.5:c.2137G=
ENST00000560720.1:n.117G=
NM_000138.4:c.6830G= , LRG_778t1:c.6830G=	NP_000129.3:p.Gly2277=
NM_000138.5:c.6830G= MANE Select	NP_000129.3:p.Gly2277=