Canonical Allele Identifier: CA392329891

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427680C>G , CM000677.2:g.48427680C>G	GRCh38
NC_000015.9:g.48719877C>G , CM000677.1:g.48719877C>G	GRCh37
NC_000015.8:g.46507169C>G	NCBI36
NG_008805.2:g.223109G>C , LRG_778:g.223109G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7091G>C MANE Select	NP_000129.3:p.Cys2364Ser
ENST00000316623.10:c.7091G>C MANE Select	ENSP00000325527.5:p.Cys2364Ser
NM_000138.4:c.7091G>C , LRG_778t1:c.7091G>C	NP_000129.3:p.Cys2364Ser
ENST00000316623.9:c.7091G>C	ENSP00000325527.5:p.Cys2364Ser
ENST00000559133.5:c.2460G>C
ENST00000559133.6:c.7153G>C	ENSP00000453958.2:p.Ala2385Pro
ENST00000674301.1:c.2257G>C	ENSP00000501333.1:n.2257G>C
ENST00000674301.2:c.*604G>C	ENSP00000501333.2:n.*604G>C
ENST00000682170.1:n.1272G>C
ENST00000682767.1:n.388G>C