Canonical Allele Identifier: CA392326039

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714223A>T (hg19) ; chr15:g.48422026A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*304T>A	ENSP00000453958.2:n.*304T>A
ENST00000674301.2:c.*1009T>A	ENSP00000501333.2:n.*1009T>A
ENST00000682170.1:n.1677T>A
ENST00000682767.1:n.793T>A
ENST00000316623.10:c.7496T>A MANE Select	ENSP00000325527.5:p.Leu2499Gln
ENST00000674301.1:c.2662T>A	ENSP00000501333.1:n.2662T>A
ENST00000316623.9:c.7496T>A	ENSP00000325527.5:p.Leu2499Gln
ENST00000559133.5:c.2865T>A
NM_000138.4:c.7496T>A , LRG_778t1:c.7496T>A	NP_000129.3:p.Leu2499Gln
NM_000138.5:c.7496T>A MANE Select	NP_000129.3:p.Leu2499Gln