Canonical Allele Identifier: CA392320072

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703545A>G (hg19) ; chr15:g.48411348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411348A>G , CM000677.2:g.48411348A>G	GRCh38
NC_000015.9:g.48703545A>G , CM000677.1:g.48703545A>G	GRCh37
NC_000015.8:g.46490837A>G	NCBI36
NG_008805.2:g.239441T>C , LRG_778:g.239441T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1066T>C	ENSP00000453958.2:n.*1066T>C
ENST00000674301.2:c.*1771T>C	ENSP00000501333.2:n.*1771T>C
ENST00000682158.1:n.1639T>C
ENST00000682170.1:n.2439T>C
ENST00000682767.1:n.1555T>C
ENST00000316623.10:c.8258T>C MANE Select	ENSP00000325527.5:p.Leu2753Pro
ENST00000674301.1:c.3424T>C	ENSP00000501333.1:n.3424T>C
ENST00000316623.9:c.8258T>C	ENSP00000325527.5:p.Leu2753Pro
ENST00000559133.5:c.3627T>C
ENST00000561429.1:n.513T>C
NM_000138.4:c.8258T>C , LRG_778t1:c.8258T>C	NP_000129.3:p.Leu2753Pro
NM_000138.5:c.8258T>C MANE Select	NP_000129.3:p.Leu2753Pro