Canonical Allele Identifier: CA392327972

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717660T>A (hg19) ; chr15:g.48425463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425463T>A , CM000677.2:g.48425463T>A	GRCh38
NC_000015.9:g.48717660T>A , CM000677.1:g.48717660T>A	GRCh37
NC_000015.8:g.46504952T>A	NCBI36
NG_008805.2:g.225326A>T , LRG_778:g.225326A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*167A>T	ENSP00000453958.2:n.*167A>T
ENST00000674301.2:c.*872A>T	ENSP00000501333.2:n.*872A>T
ENST00000682170.1:n.1540A>T
ENST00000682767.1:n.656A>T
ENST00000316623.10:c.7359A>T MANE Select	ENSP00000325527.5:p.Lys2453Asn
ENST00000674301.1:c.2525A>T	ENSP00000501333.1:n.2525A>T
ENST00000316623.9:c.7359A>T	ENSP00000325527.5:p.Lys2453Asn
ENST00000559133.5:c.2728A>T
NM_000138.4:c.7359A>T , LRG_778t1:c.7359A>T	NP_000129.3:p.Lys2453Asn
NM_000138.5:c.7359A>T MANE Select	NP_000129.3:p.Lys2453Asn