Canonical Allele Identifier: CA2175526465

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503816G= , CM000677.2:g.48503816G=	GRCh38
NC_000015.9:g.48796013G= , CM000677.1:g.48796013G=	GRCh37
NC_000015.8:g.46583305G=	NCBI36
NG_008805.2:g.146973C= , LRG_778:g.146973C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2084C=	ENSP00000453958.2:p.Pro695=
ENST00000674301.2:c.2084C=	ENSP00000501333.2:p.Pro695=
ENST00000684448.1:n.758C=
ENST00000316623.10:c.2084C= MANE Select	ENSP00000325527.5:p.Pro695=
ENST00000316623.9:c.2084C=	ENSP00000325527.5:p.Pro695=
ENST00000537463.6:c.637-29166C=	ENSP00000440294.2:n.637-29166C=
NM_000138.4:c.2084C= , LRG_778t1:c.2084C=	NP_000129.3:p.Pro695=
NM_000138.5:c.2084C= MANE Select	NP_000129.3:p.Pro695=