Canonical Allele Identifier: CA016026

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42391
• ClinVar RCV Id: RCV000035233 ; RCV000781368 ; RCV001852713
• dbSNP Id: rs397515827
• MyVariant Identifiers: chr15:g.48738944C>T (hg19) ; chr15:g.48446747C>T (hg38)
• ERepo: CA016026/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446747C>T , CM000677.2:g.48446747C>T	GRCh38
NC_000015.9:g.48738944C>T , CM000677.1:g.48738944C>T	GRCh37
NC_000015.8:g.46526236C>T	NCBI36
NG_008805.2:g.204042G>A , LRG_778:g.204042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5747G>A	ENSP00000453958.2:p.Cys1916Tyr
ENST00000674301.2:c.5747G>A	ENSP00000501333.2:p.Cys1916Tyr
ENST00000684448.1:n.4421G>A
ENST00000316623.10:c.5747G>A MANE Select	ENSP00000325527.5:p.Cys1916Tyr
ENST00000674301.1:c.746G>A	ENSP00000501333.1:p.Cys249Tyr
ENST00000316623.9:c.5747G>A	ENSP00000325527.5:p.Cys1916Tyr
ENST00000537463.6:c.*1510G>A	ENSP00000440294.2:n.*1510G>A
ENST00000559133.5:c.1054G>A
NM_000138.4:c.5747G>A , LRG_778t1:c.5747G>A	NP_000129.3:p.Cys1916Tyr
NM_000138.5:c.5747G>A MANE Select	NP_000129.3:p.Cys1916Tyr