Canonical Allele Identifier: CA713387530

Gene: FBN1

Linked Data

• dbSNP Id: rs1287449477
• MyVariant Identifiers: chr15:g.48714594G>A (hg19) ; chr15:g.48422397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422397G>A , CM000677.2:g.48422397G>A	GRCh38
NC_000015.9:g.48714594G>A , CM000677.1:g.48714594G>A	GRCh37
NC_000015.8:g.46501886G>A	NCBI36
NG_008805.2:g.228392C>T , LRG_778:g.228392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-329C>T	ENSP00000453958.2:n.*262-329C>T
ENST00000674301.2:c.*967-329C>T	ENSP00000501333.2:n.*967-329C>T
ENST00000682170.1:n.1635-329C>T
ENST00000682767.1:n.751-329C>T
ENST00000316623.10:c.7454-329C>T MANE Select	ENSP00000325527.5:n.7454-329C>T
ENST00000674301.1:c.2620-329C>T	ENSP00000501333.1:n.2620-329C>T
ENST00000316623.9:c.7454-329C>T	ENSP00000325527.5:n.7454-329C>T
ENST00000559133.5:c.2823-329C>T
NM_000138.4:c.7454-329C>T , LRG_778t1:c.7454-329C>T	NP_000129.3:n.7454-329C>T
NM_000138.5:c.7454-329C>T MANE Select	NP_000129.3:n.7454-329C>T