Canonical Allele Identifier: CA392332631

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722958T>G (hg19) ; chr15:g.48430761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430761T>G , CM000677.2:g.48430761T>G	GRCh38
NC_000015.9:g.48722958T>G , CM000677.1:g.48722958T>G	GRCh37
NC_000015.8:g.46510250T>G	NCBI36
NG_008805.2:g.220028A>C , LRG_778:g.220028A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6781A>C	ENSP00000453958.2:p.Lys2261Gln
ENST00000674301.2:c.*232A>C	ENSP00000501333.2:n.*232A>C
ENST00000682170.1:n.390A>C
ENST00000316623.10:c.6781A>C MANE Select	ENSP00000325527.5:p.Lys2261Gln
ENST00000674301.1:c.1885A>C	ENSP00000501333.1:n.1885A>C
ENST00000316623.9:c.6781A>C	ENSP00000325527.5:p.Lys2261Gln
ENST00000559133.5:c.2088A>C
ENST00000560720.1:n.68A>C
NM_000138.4:c.6781A>C , LRG_778t1:c.6781A>C	NP_000129.3:p.Lys2261Gln
NM_000138.5:c.6781A>C MANE Select	NP_000129.3:p.Lys2261Gln