Canonical Allele Identifier: CA392328761

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425820C>A , CM000677.2:g.48425820C>A	GRCh38
NC_000015.9:g.48718017C>A , CM000677.1:g.48718017C>A	GRCh37
NC_000015.8:g.46505309C>A	NCBI36
NG_008805.2:g.224969G>T , LRG_778:g.224969G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7249G>T MANE Select	NP_000129.3:p.Glu2417Ter
ENST00000316623.10:c.7249G>T MANE Select	ENSP00000325527.5:p.Glu2417Ter
NM_000138.4:c.7249G>T , LRG_778t1:c.7249G>T	NP_000129.3:p.Glu2417Ter
ENST00000316623.9:c.7249G>T	ENSP00000325527.5:p.Glu2417Ter
ENST00000559133.5:c.2618G>T
ENST00000559133.6:c.*57G>T	ENSP00000453958.2:n.*57G>T
ENST00000674301.1:c.2415G>T	ENSP00000501333.1:n.2415G>T
ENST00000674301.2:c.*762G>T	ENSP00000501333.2:n.*762G>T
ENST00000682170.1:n.1430G>T
ENST00000682767.1:n.546G>T