Canonical Allele Identifier: CA392330933

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720662T>G (hg19) ; chr15:g.48428465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428465T>G , CM000677.2:g.48428465T>G	GRCh38
NC_000015.9:g.48720662T>G , CM000677.1:g.48720662T>G	GRCh37
NC_000015.8:g.46507954T>G	NCBI36
NG_008805.2:g.222324A>C , LRG_778:g.222324A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6878A>C	ENSP00000453958.2:p.Asn2293Thr
ENST00000674301.2:c.*329A>C	ENSP00000501333.2:n.*329A>C
ENST00000682170.1:n.487A>C
ENST00000682767.1:n.113A>C
ENST00000316623.10:c.6878A>C MANE Select	ENSP00000325527.5:p.Asn2293Thr
ENST00000674301.1:c.1982A>C	ENSP00000501333.1:n.1982A>C
ENST00000316623.9:c.6878A>C	ENSP00000325527.5:p.Asn2293Thr
ENST00000559133.5:c.2185A>C
ENST00000560720.1:n.165A>C
NM_000138.4:c.6878A>C , LRG_778t1:c.6878A>C	NP_000129.3:p.Asn2293Thr
NM_000138.5:c.6878A>C MANE Select	NP_000129.3:p.Asn2293Thr