Canonical Allele Identifier: CA392332208

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722915A>G (hg19) ; chr15:g.48430718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430718A>G , CM000677.2:g.48430718A>G	GRCh38
NC_000015.9:g.48722915A>G , CM000677.1:g.48722915A>G	GRCh37
NC_000015.8:g.46510207A>G	NCBI36
NG_008805.2:g.220071T>C , LRG_778:g.220071T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6824T>C	ENSP00000453958.2:p.Ile2275Thr
ENST00000674301.2:c.*275T>C	ENSP00000501333.2:n.*275T>C
ENST00000682170.1:n.433T>C
ENST00000316623.10:c.6824T>C MANE Select	ENSP00000325527.5:p.Ile2275Thr
ENST00000674301.1:c.1928T>C	ENSP00000501333.1:n.1928T>C
ENST00000316623.9:c.6824T>C	ENSP00000325527.5:p.Ile2275Thr
ENST00000559133.5:c.2131T>C
ENST00000560720.1:n.111T>C
NM_000138.4:c.6824T>C , LRG_778t1:c.6824T>C	NP_000129.3:p.Ile2275Thr
NM_000138.5:c.6824T>C MANE Select	NP_000129.3:p.Ile2275Thr