Canonical Allele Identifier: CA392319011

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411159T>G , CM000677.2:g.48411159T>G	GRCh38
NC_000015.9:g.48703356T>G , CM000677.1:g.48703356T>G	GRCh37
NC_000015.8:g.46490648T>G	NCBI36
NG_008805.2:g.239630A>C , LRG_778:g.239630A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8447A>C MANE Select	NP_000129.3:p.His2816Pro
ENST00000316623.10:c.8447A>C MANE Select	ENSP00000325527.5:p.His2816Pro
NM_000138.4:c.8447A>C , LRG_778t1:c.8447A>C	NP_000129.3:p.His2816Pro
ENST00000316623.9:c.8447A>C	ENSP00000325527.5:p.His2816Pro
ENST00000559133.5:c.3816A>C
ENST00000559133.6:c.*1255A>C	ENSP00000453958.2:n.*1255A>C
ENST00000674301.1:c.3613A>C	ENSP00000501333.1:n.3613A>C
ENST00000674301.2:c.*1960A>C	ENSP00000501333.2:n.*1960A>C
ENST00000682158.1:n.1828A>C
ENST00000682170.1:n.2628A>C
ENST00000682767.1:n.1744A>C