Canonical Allele Identifier: CA392322512

Gene: FBN1

Linked Data

• gnomAD v4: 15-48415546-T-G
• MyVariant Identifiers: chr15:g.48707743T>G (hg19) ; chr15:g.48415546T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415546T>G , CM000677.2:g.48415546T>G	GRCh38
NC_000015.9:g.48707743T>G , CM000677.1:g.48707743T>G	GRCh37
NC_000015.8:g.46495035T>G	NCBI36
NG_008805.2:g.235243A>C , LRG_778:g.235243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*849A>C	ENSP00000453958.2:n.*849A>C
ENST00000674301.2:c.*1554A>C	ENSP00000501333.2:n.*1554A>C
ENST00000682158.1:n.1422A>C
ENST00000682170.1:n.2222A>C
ENST00000682767.1:n.1338A>C
ENST00000316623.10:c.8041A>C MANE Select	ENSP00000325527.5:p.Ile2681Leu
ENST00000674301.1:c.3207A>C	ENSP00000501333.1:n.3207A>C
ENST00000316623.9:c.8041A>C	ENSP00000325527.5:p.Ile2681Leu
ENST00000559133.5:c.3410A>C
ENST00000561429.1:n.296A>C
NM_000138.4:c.8041A>C , LRG_778t1:c.8041A>C	NP_000129.3:p.Ile2681Leu
NM_000138.5:c.8041A>C MANE Select	NP_000129.3:p.Ile2681Leu