Canonical Allele Identifier: CA392333565

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432946C>G , CM000677.2:g.48432946C>G	GRCh38
NC_000015.9:g.48725143C>G , CM000677.1:g.48725143C>G	GRCh37
NC_000015.8:g.46512435C>G	NCBI36
NG_008805.2:g.217843G>C , LRG_778:g.217843G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6659G>C MANE Select	NP_000129.3:p.Arg2220Pro
ENST00000316623.10:c.6659G>C MANE Select	ENSP00000325527.5:p.Arg2220Pro
NM_000138.4:c.6659G>C , LRG_778t1:c.6659G>C	NP_000129.3:p.Arg2220Pro
ENST00000316623.9:c.6659G>C	ENSP00000325527.5:p.Arg2220Pro
ENST00000537463.6:c.*2422G>C	ENSP00000440294.2:n.*2422G>C
ENST00000559133.5:c.1966G>C
ENST00000559133.6:c.6659G>C	ENSP00000453958.2:p.Arg2220Pro
ENST00000674301.1:c.1763G>C	ENSP00000501333.1:n.1763G>C
ENST00000674301.2:c.*110G>C	ENSP00000501333.2:n.*110G>C
ENST00000682170.1:n.268G>C