Canonical Allele Identifier: CA392318573

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1763801
• ClinVar RCV Id: RCV002447822
• MyVariant Identifiers: chr15:g.48703256A>T (hg19) ; chr15:g.48411059A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411059A>T , CM000677.2:g.48411059A>T	GRCh38
NC_000015.9:g.48703256A>T , CM000677.1:g.48703256A>T	GRCh37
NC_000015.8:g.46490548A>T	NCBI36
NG_008805.2:g.239730T>A , LRG_778:g.239730T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1355T>A	ENSP00000453958.2:n.*1355T>A
ENST00000682158.1:n.1928T>A
ENST00000682170.1:n.2728T>A
ENST00000682767.1:n.1844T>A
ENST00000316623.10:c.8547T>A MANE Select	ENSP00000325527.5:p.Tyr2849Ter
ENST00000316623.9:c.8547T>A	ENSP00000325527.5:p.Tyr2849Ter
ENST00000559133.5:c.3916T>A
NM_000138.4:c.8547T>A , LRG_778t1:c.8547T>A	NP_000129.3:p.Tyr2849Ter
NM_000138.5:c.8547T>A MANE Select	NP_000129.3:p.Tyr2849Ter