Canonical Allele Identifier: CA490017926

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720646C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428449C>T , CM000677.2:g.48428449C>T	GRCh38
NC_000015.9:g.48720646C>T , CM000677.1:g.48720646C>T	GRCh37
NC_000015.8:g.46507938C>T	NCBI36
NG_008805.2:g.222340G>A , LRG_778:g.222340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6894G>A	ENSP00000453958.2:p.Lys2298=
ENST00000674301.2:c.*345G>A	ENSP00000501333.2:n.*345G>A
ENST00000682170.1:n.503G>A
ENST00000682767.1:n.129G>A
ENST00000316623.10:c.6894G>A MANE Select	ENSP00000325527.5:p.Lys2298=
ENST00000674301.1:c.1998G>A	ENSP00000501333.1:n.1998G>A
ENST00000316623.9:c.6894G>A	ENSP00000325527.5:p.Lys2298=
ENST00000559133.5:c.2201G>A
ENST00000560720.1:n.181G>A
NM_000138.4:c.6894G>A , LRG_778t1:c.6894G>A	NP_000129.3:p.Lys2298=
NM_000138.5:c.6894G>A MANE Select	NP_000129.3:p.Lys2298=