Canonical Allele Identifier: CA392330776

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720629T>A (hg19) ; chr15:g.48428432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428432T>A , CM000677.2:g.48428432T>A	GRCh38
NC_000015.9:g.48720629T>A , CM000677.1:g.48720629T>A	GRCh37
NC_000015.8:g.46507921T>A	NCBI36
NG_008805.2:g.222357A>T , LRG_778:g.222357A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6911A>T	ENSP00000453958.2:p.Asn2304Ile
ENST00000674301.2:c.*362A>T	ENSP00000501333.2:n.*362A>T
ENST00000682170.1:n.520A>T
ENST00000682767.1:n.146A>T
ENST00000316623.10:c.6911A>T MANE Select	ENSP00000325527.5:p.Asn2304Ile
ENST00000674301.1:c.2015A>T	ENSP00000501333.1:n.2015A>T
ENST00000316623.9:c.6911A>T	ENSP00000325527.5:p.Asn2304Ile
ENST00000559133.5:c.2218A>T
ENST00000560720.1:n.198A>T
NM_000138.4:c.6911A>T , LRG_778t1:c.6911A>T	NP_000129.3:p.Asn2304Ile
NM_000138.5:c.6911A>T MANE Select	NP_000129.3:p.Asn2304Ile