Canonical Allele Identifier: CA392332674

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722964T>A (hg19) ; chr15:g.48430767T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430767T>A , CM000677.2:g.48430767T>A	GRCh38
NC_000015.9:g.48722964T>A , CM000677.1:g.48722964T>A	GRCh37
NC_000015.8:g.46510256T>A	NCBI36
NG_008805.2:g.220022A>T , LRG_778:g.220022A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6775A>T	ENSP00000453958.2:p.Thr2259Ser
ENST00000674301.2:c.*226A>T	ENSP00000501333.2:n.*226A>T
ENST00000682170.1:n.384A>T
ENST00000316623.10:c.6775A>T MANE Select	ENSP00000325527.5:p.Thr2259Ser
ENST00000674301.1:c.1879A>T	ENSP00000501333.1:n.1879A>T
ENST00000316623.9:c.6775A>T	ENSP00000325527.5:p.Thr2259Ser
ENST00000537463.6:c.*2538A>T	ENSP00000440294.2:n.*2538A>T
ENST00000559133.5:c.2082A>T
ENST00000560720.1:n.62A>T
NM_000138.4:c.6775A>T , LRG_778t1:c.6775A>T	NP_000129.3:p.Thr2259Ser
NM_000138.5:c.6775A>T MANE Select	NP_000129.3:p.Thr2259Ser