Canonical Allele Identifier: CA2175463223

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421540G= , CM000677.2:g.48421540G=	GRCh38
NC_000015.9:g.48713737G= , CM000677.1:g.48713737G=	GRCh37
NC_000015.8:g.46501029G=	NCBI36
NG_008805.2:g.229249C= , LRG_778:g.229249C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+18C=	ENSP00000453958.2:n.*507+18C=
ENST00000674301.2:c.*1212+18C=	ENSP00000501333.2:n.*1212+18C=
ENST00000682170.1:n.1880+18C=
ENST00000682767.1:n.996+18C=
ENST00000316623.10:c.7699+18C= MANE Select	ENSP00000325527.5:n.7699+18C=
ENST00000674301.1:c.2865+18C=	ENSP00000501333.1:n.2865+18C=
ENST00000316623.9:c.7699+18C=	ENSP00000325527.5:n.7699+18C=
ENST00000559133.5:c.3068+18C=
NM_000138.4:c.7699+18C= , LRG_778t1:c.7699+18C=	NP_000129.3:n.7699+18C=
NM_000138.5:c.7699+18C= MANE Select	NP_000129.3:n.7699+18C=