Canonical Allele Identifier: CA490017787

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720559G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428362G>A , CM000677.2:g.48428362G>A	GRCh38
NC_000015.9:g.48720559G>A , CM000677.1:g.48720559G>A	GRCh37
NC_000015.8:g.46507851G>A	NCBI36
NG_008805.2:g.222427C>T , LRG_778:g.222427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6981C>T	ENSP00000453958.2:p.Asn2327=
ENST00000674301.2:c.*432C>T	ENSP00000501333.2:n.*432C>T
ENST00000682170.1:n.590C>T
ENST00000682767.1:n.216C>T
ENST00000316623.10:c.6981C>T MANE Select	ENSP00000325527.5:p.Asn2327=
ENST00000674301.1:c.2085C>T	ENSP00000501333.1:n.2085C>T
ENST00000316623.9:c.6981C>T	ENSP00000325527.5:p.Asn2327=
ENST00000559133.5:c.2288C>T
ENST00000560720.1:n.268C>T
NM_000138.4:c.6981C>T , LRG_778t1:c.6981C>T	NP_000129.3:p.Asn2327=
NM_000138.5:c.6981C>T MANE Select	NP_000129.3:p.Asn2327=