Canonical Allele Identifier: CA269526018

Gene: FBN1

Linked Data

• dbSNP Id: rs112987543
• MyVariant Identifiers: chr15:g.48776055A>T (hg19) ; chr15:g.48483858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483858A>T , CM000677.2:g.48483858A>T	GRCh38
NC_000015.9:g.48776055A>T , CM000677.1:g.48776055A>T	GRCh37
NC_000015.8:g.46563347A>T	NCBI36
NG_008805.2:g.166931T>A , LRG_778:g.166931T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3798T>A	ENSP00000453958.2:p.Tyr1266Ter
ENST00000674301.2:c.3798T>A	ENSP00000501333.2:p.Tyr1266Ter
ENST00000684448.1:n.2472T>A
ENST00000316623.10:c.3798T>A MANE Select	ENSP00000325527.5:p.Tyr1266Ter
ENST00000316623.9:c.3798T>A	ENSP00000325527.5:p.Tyr1266Ter
ENST00000537463.6:c.637-9208T>A	ENSP00000440294.2:n.637-9208T>A
NM_000138.4:c.3798T>A , LRG_778t1:c.3798T>A	NP_000129.3:p.Tyr1266Ter
NM_000138.5:c.3798T>A MANE Select	NP_000129.3:p.Tyr1266Ter