Canonical Allele Identifier: CA392325997

Gene: FBN1

Linked Data

• ClinVar Variation Id: 449160
• ClinVar RCV Id: RCV000663959 ; RCV000632019 ; RCV000521613 ; RCV001526931
• dbSNP Id: rs1555394243
• MyVariant Identifiers: chr15:g.48714214T>A (hg19) ; chr15:g.48422017T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422017T>A , CM000677.2:g.48422017T>A	GRCh38
NC_000015.9:g.48714214T>A , CM000677.1:g.48714214T>A	GRCh37
NC_000015.8:g.46501506T>A	NCBI36
NG_008805.2:g.228772A>T , LRG_778:g.228772A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*313A>T	ENSP00000453958.2:n.*313A>T
ENST00000674301.2:c.*1018A>T	ENSP00000501333.2:n.*1018A>T
ENST00000682170.1:n.1686A>T
ENST00000682767.1:n.802A>T
ENST00000316623.10:c.7505A>T MANE Select	ENSP00000325527.5:p.Asn2502Ile
ENST00000674301.1:c.2671A>T	ENSP00000501333.1:n.2671A>T
ENST00000316623.9:c.7505A>T	ENSP00000325527.5:p.Asn2502Ile
ENST00000559133.5:c.2874A>T
NM_000138.4:c.7505A>T , LRG_778t1:c.7505A>T	NP_000129.3:p.Asn2502Ile
NM_000138.5:c.7505A>T MANE Select	NP_000129.3:p.Asn2502Ile