Canonical Allele Identifier: CA2175498194

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428401G= , CM000677.2:g.48428401G=	GRCh38
NC_000015.9:g.48720598G= , CM000677.1:g.48720598G=	GRCh37
NC_000015.8:g.46507890G=	NCBI36
NG_008805.2:g.222388C= , LRG_778:g.222388C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6942C=	ENSP00000453958.2:p.Tyr2314=
ENST00000674301.2:c.*393C=	ENSP00000501333.2:n.*393C=
ENST00000682170.1:n.551C=
ENST00000682767.1:n.177C=
ENST00000316623.10:c.6942C= MANE Select	ENSP00000325527.5:p.Tyr2314=
ENST00000674301.1:c.2046C=	ENSP00000501333.1:n.2046C=
ENST00000316623.9:c.6942C=	ENSP00000325527.5:p.Tyr2314=
ENST00000559133.5:c.2249C=
ENST00000560720.1:n.229C=
NM_000138.4:c.6942C= , LRG_778t1:c.6942C=	NP_000129.3:p.Tyr2314=
NM_000138.5:c.6942C= MANE Select	NP_000129.3:p.Tyr2314=