Canonical Allele Identifier: CA2175508684

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441744G= , CM000677.2:g.48441744G=	GRCh38
NC_000015.9:g.48733941G= , CM000677.1:g.48733941G=	GRCh37
NC_000015.8:g.46521233G=	NCBI36
NG_008805.2:g.209045C= , LRG_778:g.209045C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6140C=	ENSP00000453958.2:p.Ser2047=
ENST00000674301.2:c.6140C=	ENSP00000501333.2:p.Ser2047=
ENST00000316623.10:c.6140C= MANE Select	ENSP00000325527.5:p.Ser2047=
ENST00000674301.1:c.1139C=	ENSP00000501333.1:p.Ser380=
ENST00000316623.9:c.6140C=	ENSP00000325527.5:p.Ser2047=
ENST00000537463.6:c.*1903C=	ENSP00000440294.2:n.*1903C=
ENST00000559133.5:c.1447C=
ENST00000560820.1:n.260C=
NM_000138.4:c.6140C= , LRG_778t1:c.6140C=	NP_000129.3:p.Ser2047=
NM_000138.5:c.6140C= MANE Select	NP_000129.3:p.Ser2047=