Canonical Allele Identifier: CA2175489445

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415735C= , CM000677.2:g.48415735C=	GRCh38
NC_000015.9:g.48707932C= , CM000677.1:g.48707932C=	GRCh37
NC_000015.8:g.46495224C=	NCBI36
NG_008805.2:g.235054G= , LRG_778:g.235054G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7852G= MANE Select	NP_000129.3:p.Gly2618=
ENST00000316623.10:c.7852G= MANE Select	ENSP00000325527.5:p.Gly2618=
NM_000138.4:c.7852G= , LRG_778t1:c.7852G=	NP_000129.3:p.Gly2618=
ENST00000316623.9:c.7852G=	ENSP00000325527.5:p.Gly2618=
ENST00000559133.5:c.3221G=
ENST00000559133.6:c.*660G=	ENSP00000453958.2:n.*660G=
ENST00000561429.1:n.107G=
ENST00000674301.1:c.3018G=	ENSP00000501333.1:n.3018G=
ENST00000674301.2:c.*1365G=	ENSP00000501333.2:n.*1365G=
ENST00000682158.1:n.1233G=
ENST00000682170.1:n.2033G=
ENST00000682767.1:n.1149G=