Canonical Allele Identifier: CA392327862

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717636G>T (hg19) ; chr15:g.48425439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425439G>T , CM000677.2:g.48425439G>T	GRCh38
NC_000015.9:g.48717636G>T , CM000677.1:g.48717636G>T	GRCh37
NC_000015.8:g.46504928G>T	NCBI36
NG_008805.2:g.225350C>A , LRG_778:g.225350C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*191C>A	ENSP00000453958.2:n.*191C>A
ENST00000674301.2:c.*896C>A	ENSP00000501333.2:n.*896C>A
ENST00000682170.1:n.1564C>A
ENST00000682767.1:n.680C>A
ENST00000316623.10:c.7383C>A MANE Select	ENSP00000325527.5:p.Asn2461Lys
ENST00000674301.1:c.2549C>A	ENSP00000501333.1:n.2549C>A
ENST00000316623.9:c.7383C>A	ENSP00000325527.5:p.Asn2461Lys
ENST00000559133.5:c.2752C>A
NM_000138.4:c.7383C>A , LRG_778t1:c.7383C>A	NP_000129.3:p.Asn2461Lys
NM_000138.5:c.7383C>A MANE Select	NP_000129.3:p.Asn2461Lys