Canonical Allele Identifier: CA392320850

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704810T>A (hg19) ; chr15:g.48412613T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412613T>A , CM000677.2:g.48412613T>A	GRCh38
NC_000015.9:g.48704810T>A , CM000677.1:g.48704810T>A	GRCh37
NC_000015.8:g.46492102T>A	NCBI36
NG_008805.2:g.238176A>T , LRG_778:g.238176A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*990A>T	ENSP00000453958.2:n.*990A>T
ENST00000674301.2:c.*1695A>T	ENSP00000501333.2:n.*1695A>T
ENST00000682158.1:n.1563A>T
ENST00000682170.1:n.2363A>T
ENST00000682767.1:n.1479A>T
ENST00000316623.10:c.8182A>T MANE Select	ENSP00000325527.5:p.Arg2728Trp
ENST00000674301.1:c.3348A>T	ENSP00000501333.1:n.3348A>T
ENST00000316623.9:c.8182A>T	ENSP00000325527.5:p.Arg2728Trp
ENST00000559133.5:c.3551A>T
ENST00000561429.1:n.437A>T
NM_000138.4:c.8182A>T , LRG_778t1:c.8182A>T	NP_000129.3:p.Arg2728Trp
NM_000138.5:c.8182A>T MANE Select	NP_000129.3:p.Arg2728Trp