Canonical Allele Identifier: CA054696

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456747C>T , CM000677.2:g.48456747C>T	GRCh38
NC_000015.9:g.48748944C>T , CM000677.1:g.48748944C>T	GRCh37
NC_000015.8:g.46536236C>T	NCBI36
NG_008805.2:g.194042G>A , LRG_778:g.194042G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5312G>A MANE Select	NP_000129.3:p.Arg1771Gln
ENST00000316623.10:c.5312G>A MANE Select	ENSP00000325527.5:p.Arg1771Gln
NM_000138.4:c.5312G>A , LRG_778t1:c.5312G>A	NP_000129.3:p.Arg1771Gln
ENST00000316623.9:c.5312G>A	ENSP00000325527.5:p.Arg1771Gln
ENST00000537463.6:c.*1075G>A	ENSP00000440294.2:n.*1075G>A
ENST00000559133.5:c.619G>A
ENST00000559133.6:c.5312G>A	ENSP00000453958.2:p.Arg1771Gln
ENST00000674301.1:c.311G>A	ENSP00000501333.1:p.Arg104Gln
ENST00000674301.2:c.5312G>A	ENSP00000501333.2:p.Arg1771Gln
ENST00000684448.1:n.3986G>A