Canonical Allele Identifier: CA490015852

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714168T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421971T>C , CM000677.2:g.48421971T>C	GRCh38
NC_000015.9:g.48714168T>C , CM000677.1:g.48714168T>C	GRCh37
NC_000015.8:g.46501460T>C	NCBI36
NG_008805.2:g.228818A>G , LRG_778:g.228818A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*359A>G	ENSP00000453958.2:n.*359A>G
ENST00000674301.2:c.*1064A>G	ENSP00000501333.2:n.*1064A>G
ENST00000682170.1:n.1732A>G
ENST00000682767.1:n.848A>G
ENST00000316623.10:c.7551A>G MANE Select	ENSP00000325527.5:p.Gln2517=
ENST00000674301.1:c.2717A>G	ENSP00000501333.1:n.2717A>G
ENST00000316623.9:c.7551A>G	ENSP00000325527.5:p.Gln2517=
ENST00000559133.5:c.2920A>G
NM_000138.4:c.7551A>G , LRG_778t1:c.7551A>G	NP_000129.3:p.Gln2517=
NM_000138.5:c.7551A>G MANE Select	NP_000129.3:p.Gln2517=