Canonical Allele Identifier: CA057475

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430698G>A , CM000677.2:g.48430698G>A	GRCh38
NC_000015.9:g.48722895G>A , CM000677.1:g.48722895G>A	GRCh37
NC_000015.8:g.46510187G>A	NCBI36
NG_008805.2:g.220091C>T , LRG_778:g.220091C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6844C>T MANE Select	NP_000129.3:p.Arg2282Trp
ENST00000316623.10:c.6844C>T MANE Select	ENSP00000325527.5:p.Arg2282Trp
NM_000138.4:c.6844C>T , LRG_778t1:c.6844C>T	NP_000129.3:p.Arg2282Trp
ENST00000316623.9:c.6844C>T	ENSP00000325527.5:p.Arg2282Trp
ENST00000559133.5:c.2151C>T
ENST00000559133.6:c.6844C>T	ENSP00000453958.2:p.Arg2282Trp
ENST00000560720.1:n.131C>T
ENST00000674301.1:c.1948C>T	ENSP00000501333.1:n.1948C>T
ENST00000674301.2:c.*295C>T	ENSP00000501333.2:n.*295C>T
ENST00000682170.1:n.453C>T