Canonical Allele Identifier: CA392336535

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437008C>T , CM000677.2:g.48437008C>T	GRCh38
NC_000015.9:g.48729205C>T , CM000677.1:g.48729205C>T	GRCh37
NC_000015.8:g.46516497C>T	NCBI36
NG_008805.2:g.213781G>A , LRG_778:g.213781G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6449G>A MANE Select	NP_000129.3:p.Arg2150His
ENST00000316623.10:c.6449G>A MANE Select	ENSP00000325527.5:p.Arg2150His
NM_000138.4:c.6449G>A , LRG_778t1:c.6449G>A	NP_000129.3:p.Arg2150His
ENST00000316623.9:c.6449G>A	ENSP00000325527.5:p.Arg2150His
ENST00000537463.6:c.*2212G>A	ENSP00000440294.2:n.*2212G>A
ENST00000559133.5:c.1756G>A
ENST00000559133.6:c.6449G>A	ENSP00000453958.2:p.Arg2150His
ENST00000674301.1:c.1448G>A	ENSP00000501333.1:p.Arg483His
ENST00000674301.2:c.6449G>A	ENSP00000501333.2:p.Arg2150His
ENST00000682170.1:n.58G>A