Canonical Allele Identifier: CA054562

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48460264A>C , CM000677.2:g.48460264A>C	GRCh38
NC_000015.9:g.48752461A>C , CM000677.1:g.48752461A>C	GRCh37
NC_000015.8:g.46539753A>C	NCBI36
NG_008805.2:g.190525T>G , LRG_778:g.190525T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5278T>G MANE Select	NP_000129.3:p.Tyr1760Asp
ENST00000316623.10:c.5278T>G MANE Select	ENSP00000325527.5:p.Tyr1760Asp
NM_000138.4:c.5278T>G , LRG_778t1:c.5278T>G	NP_000129.3:p.Tyr1760Asp
ENST00000316623.9:c.5278T>G	ENSP00000325527.5:p.Tyr1760Asp
ENST00000537463.6:c.*1041T>G	ENSP00000440294.2:n.*1041T>G
ENST00000559133.5:c.585T>G
ENST00000559133.6:c.5278T>G	ENSP00000453958.2:p.Tyr1760Asp
ENST00000674301.1:c.277T>G	ENSP00000501333.1:p.Tyr93Asp
ENST00000674301.2:c.5278T>G	ENSP00000501333.2:p.Tyr1760Asp
ENST00000684448.1:n.3952T>G