Canonical Allele Identifier: CA2175492440

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445416A= , CM000677.2:g.48445416A=	GRCh38
NC_000015.9:g.48737613A= , CM000677.1:g.48737613A=	GRCh37
NC_000015.8:g.46524905A=	NCBI36
NG_008805.2:g.205373T= , LRG_778:g.205373T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5877T=	ENSP00000453958.2:p.Asn1959=
ENST00000674301.2:c.5877T=	ENSP00000501333.2:p.Asn1959=
ENST00000684448.1:n.4551T=
ENST00000316623.10:c.5877T= MANE Select	ENSP00000325527.5:p.Asn1959=
ENST00000674301.1:c.876T=	ENSP00000501333.1:p.Asn292=
ENST00000316623.9:c.5877T=	ENSP00000325527.5:p.Asn1959=
ENST00000537463.6:c.*1640T=	ENSP00000440294.2:n.*1640T=
ENST00000559133.5:c.1184T=
NM_000138.4:c.5877T= , LRG_778t1:c.5877T=	NP_000129.3:p.Asn1959=
NM_000138.5:c.5877T= MANE Select	NP_000129.3:p.Asn1959=