Canonical Allele Identifier: CA392330377

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527142
• ClinVar RCV Id: RCV000631902
• dbSNP Id: rs1555394585
• MyVariant Identifiers: chr15:g.48719972T>A (hg19) ; chr15:g.48427775T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427775T>A , CM000677.2:g.48427775T>A	GRCh38
NC_000015.9:g.48719972T>A , CM000677.1:g.48719972T>A	GRCh37
NC_000015.8:g.46507264T>A	NCBI36
NG_008805.2:g.223014A>T , LRG_778:g.223014A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7060-2A>T	ENSP00000453958.2:n.7060-2A>T
ENST00000674301.2:c.*511-2A>T	ENSP00000501333.2:n.*511-2A>T
ENST00000682170.1:n.1177A>T
ENST00000682767.1:n.295-2A>T
ENST00000316623.10:c.6998-2A>T MANE Select	ENSP00000325527.5:n.6998-2A>T
ENST00000674301.1:c.2164-2A>T	ENSP00000501333.1:n.2164-2A>T
ENST00000316623.9:c.6998-2A>T	ENSP00000325527.5:n.6998-2A>T
ENST00000559133.5:c.2367-2A>T
NM_000138.4:c.6998-2A>T , LRG_778t1:c.6998-2A>T	NP_000129.3:n.6998-2A>T
NM_000138.5:c.6998-2A>T MANE Select	NP_000129.3:n.6998-2A>T