Canonical Allele Identifier: CA392331842

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430670C>T , CM000677.2:g.48430670C>T	GRCh38
NC_000015.9:g.48722867C>T , CM000677.1:g.48722867C>T	GRCh37
NC_000015.8:g.46510159C>T	NCBI36
NG_008805.2:g.220119G>A , LRG_778:g.220119G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6871+1G>A MANE Select	NP_000129.3:n.6871+1G>A
ENST00000316623.10:c.6871+1G>A MANE Select	ENSP00000325527.5:n.6871+1G>A
NM_000138.4:c.6871+1G>A , LRG_778t1:c.6871+1G>A	NP_000129.3:n.6871+1G>A
ENST00000316623.9:c.6871+1G>A	ENSP00000325527.5:n.6871+1G>A
ENST00000559133.5:c.2178+1G>A
ENST00000559133.6:c.6871+1G>A	ENSP00000453958.2:n.6871+1G>A
ENST00000560720.1:n.158+1G>A
ENST00000674301.1:c.1975+1G>A	ENSP00000501333.1:n.1975+1G>A
ENST00000674301.2:c.*322+1G>A	ENSP00000501333.2:n.*322+1G>A
ENST00000682170.1:n.480+1G>A