Canonical Allele Identifier: CA392326038

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422026A>G , CM000677.2:g.48422026A>G	GRCh38
NC_000015.9:g.48714223A>G , CM000677.1:g.48714223A>G	GRCh37
NC_000015.8:g.46501515A>G	NCBI36
NG_008805.2:g.228763T>C , LRG_778:g.228763T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7496T>C MANE Select	NP_000129.3:p.Leu2499Pro
ENST00000316623.10:c.7496T>C MANE Select	ENSP00000325527.5:p.Leu2499Pro
NM_000138.4:c.7496T>C , LRG_778t1:c.7496T>C	NP_000129.3:p.Leu2499Pro
ENST00000316623.9:c.7496T>C	ENSP00000325527.5:p.Leu2499Pro
ENST00000559133.5:c.2865T>C
ENST00000559133.6:c.*304T>C	ENSP00000453958.2:n.*304T>C
ENST00000674301.1:c.2662T>C	ENSP00000501333.1:n.2662T>C
ENST00000674301.2:c.*1009T>C	ENSP00000501333.2:n.*1009T>C
ENST00000682170.1:n.1677T>C
ENST00000682767.1:n.793T>C