Canonical Allele Identifier: CA269518600

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411229A>G , CM000677.2:g.48411229A>G	GRCh38
NC_000015.9:g.48703426A>G , CM000677.1:g.48703426A>G	GRCh37
NC_000015.8:g.46490718A>G	NCBI36
NG_008805.2:g.239560T>C , LRG_778:g.239560T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8377T>C MANE Select	NP_000129.3:p.Tyr2793His
ENST00000316623.10:c.8377T>C MANE Select	ENSP00000325527.5:p.Tyr2793His
NM_000138.4:c.8377T>C , LRG_778t1:c.8377T>C	NP_000129.3:p.Tyr2793His
ENST00000316623.9:c.8377T>C	ENSP00000325527.5:p.Tyr2793His
ENST00000559133.5:c.3746T>C
ENST00000559133.6:c.*1185T>C	ENSP00000453958.2:n.*1185T>C
ENST00000561429.1:n.632T>C
ENST00000674301.1:c.3543T>C	ENSP00000501333.1:n.3543T>C
ENST00000674301.2:c.*1890T>C	ENSP00000501333.2:n.*1890T>C
ENST00000682158.1:n.1758T>C
ENST00000682170.1:n.2558T>C
ENST00000682767.1:n.1674T>C