Canonical Allele Identifier: CA392346032

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456690C>G , CM000677.2:g.48456690C>G	GRCh38
NC_000015.9:g.48748887C>G , CM000677.1:g.48748887C>G	GRCh37
NC_000015.8:g.46536179C>G	NCBI36
NG_008805.2:g.194099G>C , LRG_778:g.194099G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5369G>C MANE Select	NP_000129.3:p.Arg1790Pro
ENST00000316623.10:c.5369G>C MANE Select	ENSP00000325527.5:p.Arg1790Pro
NM_000138.4:c.5369G>C , LRG_778t1:c.5369G>C	NP_000129.3:p.Arg1790Pro
ENST00000316623.9:c.5369G>C	ENSP00000325527.5:p.Arg1790Pro
ENST00000537463.6:c.*1132G>C	ENSP00000440294.2:n.*1132G>C
ENST00000559133.5:c.676G>C
ENST00000559133.6:c.5369G>C	ENSP00000453958.2:p.Arg1790Pro
ENST00000674301.1:c.368G>C	ENSP00000501333.1:p.Arg123Pro
ENST00000674301.2:c.5369G>C	ENSP00000501333.2:p.Arg1790Pro
ENST00000684448.1:n.4043G>C