Canonical Allele Identifier: CA392336733

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437322C>T , CM000677.2:g.48437322C>T	GRCh38
NC_000015.9:g.48729519C>T , CM000677.1:g.48729519C>T	GRCh37
NC_000015.8:g.46516811C>T	NCBI36
NG_008805.2:g.213467G>A , LRG_778:g.213467G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6379G>A MANE Select	NP_000129.3:p.Asp2127Asn
ENST00000316623.10:c.6379G>A MANE Select	ENSP00000325527.5:p.Asp2127Asn
NM_000138.4:c.6379G>A , LRG_778t1:c.6379G>A	NP_000129.3:p.Asp2127Asn
ENST00000316623.9:c.6379G>A	ENSP00000325527.5:p.Asp2127Asn
ENST00000537463.6:c.*2142G>A	ENSP00000440294.2:n.*2142G>A
ENST00000559133.5:c.1686G>A
ENST00000559133.6:c.6379G>A	ENSP00000453958.2:p.Asp2127Asn
ENST00000674301.1:c.1378G>A	ENSP00000501333.1:p.Asp460Asn
ENST00000674301.2:c.6379G>A	ENSP00000501333.2:p.Asp2127Asn