Canonical Allele Identifier: CA017551

Gene: FBN1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412714C>T , CM000677.2:g.48412714C>T	GRCh38
NC_000015.9:g.48704911C>T , CM000677.1:g.48704911C>T	GRCh37
NC_000015.8:g.46492203C>T	NCBI36
NG_008805.2:g.238075G>A , LRG_778:g.238075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*889G>A	ENSP00000453958.2:n.*889G>A
ENST00000674301.2:c.*1594G>A	ENSP00000501333.2:n.*1594G>A
ENST00000682158.1:n.1462G>A
ENST00000682170.1:n.2262G>A
ENST00000682767.1:n.1378G>A
ENST00000316623.10:c.8081G>A MANE Select	ENSP00000325527.5:p.Arg2694Gln
ENST00000674301.1:c.3247G>A	ENSP00000501333.1:n.3247G>A
ENST00000316623.9:c.8081G>A	ENSP00000325527.5:p.Arg2694Gln
ENST00000559133.5:c.3450G>A
ENST00000561429.1:n.336G>A
NM_000138.4:c.8081G>A , LRG_778t1:c.8081G>A	NP_000129.3:p.Arg2694Gln
NM_000138.5:c.8081G>A MANE Select	NP_000129.3:p.Arg2694Gln