Canonical Allele Identifier: CA392333626

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48725156G>T (hg19) ; chr15:g.48432959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432959G>T , CM000677.2:g.48432959G>T	GRCh38
NC_000015.9:g.48725156G>T , CM000677.1:g.48725156G>T	GRCh37
NC_000015.8:g.46512448G>T	NCBI36
NG_008805.2:g.217830C>A , LRG_778:g.217830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6646C>A	ENSP00000453958.2:p.Leu2216Ile
ENST00000674301.2:c.*97C>A	ENSP00000501333.2:n.*97C>A
ENST00000682170.1:n.255C>A
ENST00000316623.10:c.6646C>A MANE Select	ENSP00000325527.5:p.Leu2216Ile
ENST00000674301.1:c.1750C>A	ENSP00000501333.1:n.1750C>A
ENST00000316623.9:c.6646C>A	ENSP00000325527.5:p.Leu2216Ile
ENST00000537463.6:c.*2409C>A	ENSP00000440294.2:n.*2409C>A
ENST00000559133.5:c.1953C>A
NM_000138.4:c.6646C>A , LRG_778t1:c.6646C>A	NP_000129.3:p.Leu2216Ile
NM_000138.5:c.6646C>A MANE Select	NP_000129.3:p.Leu2216Ile