Canonical Allele Identifier: CA392332258

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430723C>G , CM000677.2:g.48430723C>G	GRCh38
NC_000015.9:g.48722920C>G , CM000677.1:g.48722920C>G	GRCh37
NC_000015.8:g.46510212C>G	NCBI36
NG_008805.2:g.220066G>C , LRG_778:g.220066G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6819G>C MANE Select	NP_000129.3:p.Met2273Ile
ENST00000316623.10:c.6819G>C MANE Select	ENSP00000325527.5:p.Met2273Ile
NM_000138.4:c.6819G>C , LRG_778t1:c.6819G>C	NP_000129.3:p.Met2273Ile
ENST00000316623.9:c.6819G>C	ENSP00000325527.5:p.Met2273Ile
ENST00000559133.5:c.2126G>C
ENST00000559133.6:c.6819G>C	ENSP00000453958.2:p.Met2273Ile
ENST00000560720.1:n.106G>C
ENST00000674301.1:c.1923G>C	ENSP00000501333.1:n.1923G>C
ENST00000674301.2:c.*270G>C	ENSP00000501333.2:n.*270G>C
ENST00000682170.1:n.428G>C