Canonical Allele Identifier: CA392341317

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446783G>A , CM000677.2:g.48446783G>A	GRCh38
NC_000015.9:g.48738980G>A , CM000677.1:g.48738980G>A	GRCh37
NC_000015.8:g.46526272G>A	NCBI36
NG_008805.2:g.204006C>T , LRG_778:g.204006C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5711C>T MANE Select	NP_000129.3:p.Thr1904Ile
ENST00000316623.10:c.5711C>T MANE Select	ENSP00000325527.5:p.Thr1904Ile
NM_000138.4:c.5711C>T , LRG_778t1:c.5711C>T	NP_000129.3:p.Thr1904Ile
ENST00000316623.9:c.5711C>T	ENSP00000325527.5:p.Thr1904Ile
ENST00000537463.6:c.*1474C>T	ENSP00000440294.2:n.*1474C>T
ENST00000559133.5:c.1018C>T
ENST00000559133.6:c.5711C>T	ENSP00000453958.2:p.Thr1904Ile
ENST00000674301.1:c.710C>T	ENSP00000501333.1:p.Thr237Ile
ENST00000674301.2:c.5711C>T	ENSP00000501333.2:p.Thr1904Ile
ENST00000684448.1:n.4385C>T