Canonical Allele Identifier: CA392330877

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720650G>T (hg19) ; chr15:g.48428453G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428453G>T , CM000677.2:g.48428453G>T	GRCh38
NC_000015.9:g.48720650G>T , CM000677.1:g.48720650G>T	GRCh37
NC_000015.8:g.46507942G>T	NCBI36
NG_008805.2:g.222336C>A , LRG_778:g.222336C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6890C>A	ENSP00000453958.2:p.Thr2297Lys
ENST00000674301.2:c.*341C>A	ENSP00000501333.2:n.*341C>A
ENST00000682170.1:n.499C>A
ENST00000682767.1:n.125C>A
ENST00000316623.10:c.6890C>A MANE Select	ENSP00000325527.5:p.Thr2297Lys
ENST00000674301.1:c.1994C>A	ENSP00000501333.1:n.1994C>A
ENST00000316623.9:c.6890C>A	ENSP00000325527.5:p.Thr2297Lys
ENST00000559133.5:c.2197C>A
ENST00000560720.1:n.177C>A
NM_000138.4:c.6890C>A , LRG_778t1:c.6890C>A	NP_000129.3:p.Thr2297Lys
NM_000138.5:c.6890C>A MANE Select	NP_000129.3:p.Thr2297Lys