Canonical Allele Identifier: CA392349169

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463146G>C , CM000677.2:g.48463146G>C	GRCh38
NC_000015.9:g.48755343G>C , CM000677.1:g.48755343G>C	GRCh37
NC_000015.8:g.46542635G>C	NCBI36
NG_008805.2:g.187643C>G , LRG_778:g.187643C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5160C>G MANE Select	NP_000129.3:p.Cys1720Trp
ENST00000316623.10:c.5160C>G MANE Select	ENSP00000325527.5:p.Cys1720Trp
NM_000138.4:c.5160C>G , LRG_778t1:c.5160C>G	NP_000129.3:p.Cys1720Trp
ENST00000316623.9:c.5160C>G	ENSP00000325527.5:p.Cys1720Trp
ENST00000537463.6:c.*923C>G	ENSP00000440294.2:n.*923C>G
ENST00000559133.5:c.467C>G
ENST00000559133.6:c.5160C>G	ENSP00000453958.2:p.Cys1720Trp
ENST00000674301.1:c.159C>G	ENSP00000501333.1:p.Cys53Trp
ENST00000674301.2:c.5160C>G	ENSP00000501333.2:p.Cys1720Trp
ENST00000684448.1:n.3834C>G