Canonical Allele Identifier: CA10583240

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237101
• ClinVar RCV Id: RCV000234135
• dbSNP Id: rs878853687
• MyVariant Identifiers: chr15:g.48730006C>T (hg19) ; chr15:g.48437809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437809C>T , CM000677.2:g.48437809C>T	GRCh38
NC_000015.9:g.48730006C>T , CM000677.1:g.48730006C>T	GRCh37
NC_000015.8:g.46517298C>T	NCBI36
NG_008805.2:g.212980G>A , LRG_778:g.212980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6272G>A	ENSP00000453958.2:p.Gly2091Asp
ENST00000674301.2:c.6272G>A	ENSP00000501333.2:p.Gly2091Asp
ENST00000316623.10:c.6272G>A MANE Select	ENSP00000325527.5:p.Gly2091Asp
ENST00000674301.1:c.1271G>A	ENSP00000501333.1:p.Gly424Asp
ENST00000316623.9:c.6272G>A	ENSP00000325527.5:p.Gly2091Asp
ENST00000537463.6:c.*2035G>A	ENSP00000440294.2:n.*2035G>A
ENST00000559133.5:c.1579G>A
ENST00000560820.1:n.392G>A
NM_000138.4:c.6272G>A , LRG_778t1:c.6272G>A	NP_000129.3:p.Gly2091Asp
NM_000138.5:c.6272G>A MANE Select	NP_000129.3:p.Gly2091Asp