Canonical Allele Identifier: CA392334618

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48726799G>T (hg19) ; chr15:g.48434602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434602G>T , CM000677.2:g.48434602G>T	GRCh38
NC_000015.9:g.48726799G>T , CM000677.1:g.48726799G>T	GRCh37
NC_000015.8:g.46514091G>T	NCBI36
NG_008805.2:g.216187C>A , LRG_778:g.216187C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6608C>A	ENSP00000453958.2:p.Thr2203Lys
ENST00000674301.2:c.6608C>A	ENSP00000501333.2:p.Thr2203Lys
ENST00000682170.1:n.217C>A
ENST00000316623.10:c.6608C>A MANE Select	ENSP00000325527.5:p.Thr2203Lys
ENST00000674301.1:c.1607C>A	ENSP00000501333.1:p.Thr536Lys
ENST00000316623.9:c.6608C>A	ENSP00000325527.5:p.Thr2203Lys
ENST00000537463.6:c.*2371C>A	ENSP00000440294.2:n.*2371C>A
ENST00000559133.5:c.1915C>A
NM_000138.4:c.6608C>A , LRG_778t1:c.6608C>A	NP_000129.3:p.Thr2203Lys
NM_000138.5:c.6608C>A MANE Select	NP_000129.3:p.Thr2203Lys