Canonical Allele Identifier: CA392330464

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720557T>A (hg19) ; chr15:g.48428360T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428360T>A , CM000677.2:g.48428360T>A	GRCh38
NC_000015.9:g.48720557T>A , CM000677.1:g.48720557T>A	GRCh37
NC_000015.8:g.46507849T>A	NCBI36
NG_008805.2:g.222429A>T , LRG_778:g.222429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6983A>T	ENSP00000453958.2:p.Gln2328Leu
ENST00000674301.2:c.*434A>T	ENSP00000501333.2:n.*434A>T
ENST00000682170.1:n.592A>T
ENST00000682767.1:n.218A>T
ENST00000316623.10:c.6983A>T MANE Select	ENSP00000325527.5:p.Gln2328Leu
ENST00000674301.1:c.2087A>T	ENSP00000501333.1:n.2087A>T
ENST00000316623.9:c.6983A>T	ENSP00000325527.5:p.Gln2328Leu
ENST00000559133.5:c.2290A>T
ENST00000560720.1:n.270A>T
NM_000138.4:c.6983A>T , LRG_778t1:c.6983A>T	NP_000129.3:p.Gln2328Leu
NM_000138.5:c.6983A>T MANE Select	NP_000129.3:p.Gln2328Leu