Canonical Allele Identifier: CA392320700

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704776G>T (hg19) ; chr15:g.48412579G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412579G>T , CM000677.2:g.48412579G>T	GRCh38
NC_000015.9:g.48704776G>T , CM000677.1:g.48704776G>T	GRCh37
NC_000015.8:g.46492068G>T	NCBI36
NG_008805.2:g.238210C>A , LRG_778:g.238210C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1024C>A	ENSP00000453958.2:n.*1024C>A
ENST00000674301.2:c.*1729C>A	ENSP00000501333.2:n.*1729C>A
ENST00000682158.1:n.1597C>A
ENST00000682170.1:n.2397C>A
ENST00000682767.1:n.1513C>A
ENST00000316623.10:c.8216C>A MANE Select	ENSP00000325527.5:p.Ser2739Tyr
ENST00000674301.1:c.3382C>A	ENSP00000501333.1:n.3382C>A
ENST00000316623.9:c.8216C>A	ENSP00000325527.5:p.Ser2739Tyr
ENST00000559133.5:c.3585C>A
ENST00000561429.1:n.471C>A
NM_000138.4:c.8216C>A , LRG_778t1:c.8216C>A	NP_000129.3:p.Ser2739Tyr
NM_000138.5:c.8216C>A MANE Select	NP_000129.3:p.Ser2739Tyr