Canonical Allele Identifier: CA392332136

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722901A>T (hg19) ; chr15:g.48430704A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430704A>T , CM000677.2:g.48430704A>T	GRCh38
NC_000015.9:g.48722901A>T , CM000677.1:g.48722901A>T	GRCh37
NC_000015.8:g.46510193A>T	NCBI36
NG_008805.2:g.220085T>A , LRG_778:g.220085T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6838T>A	ENSP00000453958.2:p.Tyr2280Asn
ENST00000674301.2:c.*289T>A	ENSP00000501333.2:n.*289T>A
ENST00000682170.1:n.447T>A
ENST00000316623.10:c.6838T>A MANE Select	ENSP00000325527.5:p.Tyr2280Asn
ENST00000674301.1:c.1942T>A	ENSP00000501333.1:n.1942T>A
ENST00000316623.9:c.6838T>A	ENSP00000325527.5:p.Tyr2280Asn
ENST00000559133.5:c.2145T>A
ENST00000560720.1:n.125T>A
NM_000138.4:c.6838T>A , LRG_778t1:c.6838T>A	NP_000129.3:p.Tyr2280Asn
NM_000138.5:c.6838T>A MANE Select	NP_000129.3:p.Tyr2280Asn