Canonical Allele Identifier: CA392353614

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468484T>A , CM000677.2:g.48468484T>A	GRCh38
NC_000015.9:g.48760681T>A , CM000677.1:g.48760681T>A	GRCh37
NC_000015.8:g.46547973T>A	NCBI36
NG_008805.2:g.182305A>T , LRG_778:g.182305A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.4510A>T MANE Select	NP_000129.3:p.Asn1504Tyr
ENST00000316623.10:c.4510A>T MANE Select	ENSP00000325527.5:p.Asn1504Tyr
NM_000138.4:c.4510A>T , LRG_778t1:c.4510A>T	NP_000129.3:p.Asn1504Tyr
ENST00000316623.9:c.4510A>T	ENSP00000325527.5:p.Asn1504Tyr
ENST00000537463.6:c.*273A>T	ENSP00000440294.2:n.*273A>T
ENST00000559133.6:c.4510A>T	ENSP00000453958.2:p.Asn1504Tyr
ENST00000674301.2:c.4510A>T	ENSP00000501333.2:p.Asn1504Tyr
ENST00000684448.1:n.3184A>T