Canonical Allele Identifier: CA015728

Gene: FBN1

Linked Data

• ClinVar Variation Id: 180356
• ClinVar RCV Id: RCV000157230
• dbSNP Id: rs730880103
• MyVariant Identifiers: chr15:g.48752459A>T (hg19) ; chr15:g.48460262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48460262A>T , CM000677.2:g.48460262A>T	GRCh38
NC_000015.9:g.48752459A>T , CM000677.1:g.48752459A>T	GRCh37
NC_000015.8:g.46539751A>T	NCBI36
NG_008805.2:g.190527T>A , LRG_778:g.190527T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5280T>A	ENSP00000453958.2:p.Tyr1760Ter
ENST00000674301.2:c.5280T>A	ENSP00000501333.2:p.Tyr1760Ter
ENST00000684448.1:n.3954T>A
ENST00000316623.10:c.5280T>A MANE Select	ENSP00000325527.5:p.Tyr1760Ter
ENST00000674301.1:c.279T>A	ENSP00000501333.1:p.Tyr93Ter
ENST00000316623.9:c.5280T>A	ENSP00000325527.5:p.Tyr1760Ter
ENST00000537463.6:c.*1043T>A	ENSP00000440294.2:n.*1043T>A
ENST00000559133.5:c.587T>A
NM_000138.4:c.5280T>A , LRG_778t1:c.5280T>A	NP_000129.3:p.Tyr1760Ter
NM_000138.5:c.5280T>A MANE Select	NP_000129.3:p.Tyr1760Ter