Canonical Allele Identifier: CA392337236

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437893G>A , CM000677.2:g.48437893G>A	GRCh38
NC_000015.9:g.48730090G>A , CM000677.1:g.48730090G>A	GRCh37
NC_000015.8:g.46517382G>A	NCBI36
NG_008805.2:g.212896C>T , LRG_778:g.212896C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6188C>T MANE Select	NP_000129.3:p.Ala2063Val
ENST00000316623.10:c.6188C>T MANE Select	ENSP00000325527.5:p.Ala2063Val
NM_000138.4:c.6188C>T , LRG_778t1:c.6188C>T	NP_000129.3:p.Ala2063Val
ENST00000316623.9:c.6188C>T	ENSP00000325527.5:p.Ala2063Val
ENST00000537463.6:c.*1951C>T	ENSP00000440294.2:n.*1951C>T
ENST00000559133.5:c.1495C>T
ENST00000559133.6:c.6188C>T	ENSP00000453958.2:p.Ala2063Val
ENST00000560820.1:n.308C>T
ENST00000674301.1:c.1187C>T	ENSP00000501333.1:p.Ala396Val
ENST00000674301.2:c.6188C>T	ENSP00000501333.2:p.Ala2063Val