Canonical Allele Identifier: CA2175495239

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446774T= , CM000677.2:g.48446774T=	GRCh38
NC_000015.9:g.48738971T= , CM000677.1:g.48738971T=	GRCh37
NC_000015.8:g.46526263T=	NCBI36
NG_008805.2:g.204015A= , LRG_778:g.204015A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5720A=	ENSP00000453958.2:p.Asn1907=
ENST00000674301.2:c.5720A=	ENSP00000501333.2:p.Asn1907=
ENST00000684448.1:n.4394A=
ENST00000316623.10:c.5720A= MANE Select	ENSP00000325527.5:p.Asn1907=
ENST00000674301.1:c.719A=	ENSP00000501333.1:p.Asn240=
ENST00000316623.9:c.5720A=	ENSP00000325527.5:p.Asn1907=
ENST00000537463.6:c.*1483A=	ENSP00000440294.2:n.*1483A=
ENST00000559133.5:c.1027A=
NM_000138.4:c.5720A= , LRG_778t1:c.5720A=	NP_000129.3:p.Asn1907=
NM_000138.5:c.5720A= MANE Select	NP_000129.3:p.Asn1907=