Canonical Allele Identifier: CA392321568

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704914C>A (hg19) ; chr15:g.48412717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412717C>A , CM000677.2:g.48412717C>A	GRCh38
NC_000015.9:g.48704914C>A , CM000677.1:g.48704914C>A	GRCh37
NC_000015.8:g.46492206C>A	NCBI36
NG_008805.2:g.238072G>T , LRG_778:g.238072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*886G>T	ENSP00000453958.2:n.*886G>T
ENST00000674301.2:c.*1591G>T	ENSP00000501333.2:n.*1591G>T
ENST00000682158.1:n.1459G>T
ENST00000682170.1:n.2259G>T
ENST00000682767.1:n.1375G>T
ENST00000316623.10:c.8078G>T MANE Select	ENSP00000325527.5:p.Gly2693Val
ENST00000674301.1:c.3244G>T	ENSP00000501333.1:n.3244G>T
ENST00000316623.9:c.8078G>T	ENSP00000325527.5:p.Gly2693Val
ENST00000559133.5:c.3447G>T
ENST00000561429.1:n.333G>T
NM_000138.4:c.8078G>T , LRG_778t1:c.8078G>T	NP_000129.3:p.Gly2693Val
NM_000138.5:c.8078G>T MANE Select	NP_000129.3:p.Gly2693Val