Canonical Allele Identifier: CA392333559

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48725141A>T (hg19) ; chr15:g.48432944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432944A>T , CM000677.2:g.48432944A>T	GRCh38
NC_000015.9:g.48725141A>T , CM000677.1:g.48725141A>T	GRCh37
NC_000015.8:g.46512433A>T	NCBI36
NG_008805.2:g.217845T>A , LRG_778:g.217845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6661T>A	ENSP00000453958.2:p.Cys2221Ser
ENST00000674301.2:c.*112T>A	ENSP00000501333.2:n.*112T>A
ENST00000682170.1:n.270T>A
ENST00000316623.10:c.6661T>A MANE Select	ENSP00000325527.5:p.Cys2221Ser
ENST00000674301.1:c.1765T>A	ENSP00000501333.1:n.1765T>A
ENST00000316623.9:c.6661T>A	ENSP00000325527.5:p.Cys2221Ser
ENST00000537463.6:c.*2424T>A	ENSP00000440294.2:n.*2424T>A
ENST00000559133.5:c.1968T>A
NM_000138.4:c.6661T>A , LRG_778t1:c.6661T>A	NP_000129.3:p.Cys2221Ser
NM_000138.5:c.6661T>A MANE Select	NP_000129.3:p.Cys2221Ser