Canonical Allele Identifier: CA392320702

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704777A>G (hg19) ; chr15:g.48412580A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412580A>G , CM000677.2:g.48412580A>G	GRCh38
NC_000015.9:g.48704777A>G , CM000677.1:g.48704777A>G	GRCh37
NC_000015.8:g.46492069A>G	NCBI36
NG_008805.2:g.238209T>C , LRG_778:g.238209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1023T>C	ENSP00000453958.2:n.*1023T>C
ENST00000674301.2:c.*1728T>C	ENSP00000501333.2:n.*1728T>C
ENST00000682158.1:n.1596T>C
ENST00000682170.1:n.2396T>C
ENST00000682767.1:n.1512T>C
ENST00000316623.10:c.8215T>C MANE Select	ENSP00000325527.5:p.Ser2739Pro
ENST00000674301.1:c.3381T>C	ENSP00000501333.1:n.3381T>C
ENST00000316623.9:c.8215T>C	ENSP00000325527.5:p.Ser2739Pro
ENST00000559133.5:c.3584T>C
ENST00000561429.1:n.470T>C
NM_000138.4:c.8215T>C , LRG_778t1:c.8215T>C	NP_000129.3:p.Ser2739Pro
NM_000138.5:c.8215T>C MANE Select	NP_000129.3:p.Ser2739Pro