Canonical Allele Identifier: CA392321637

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704932A>C (hg19) ; chr15:g.48412735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412735A>C , CM000677.2:g.48412735A>C	GRCh38
NC_000015.9:g.48704932A>C , CM000677.1:g.48704932A>C	GRCh37
NC_000015.8:g.46492224A>C	NCBI36
NG_008805.2:g.238054T>G , LRG_778:g.238054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*868T>G	ENSP00000453958.2:n.*868T>G
ENST00000674301.2:c.*1573T>G	ENSP00000501333.2:n.*1573T>G
ENST00000682158.1:n.1441T>G
ENST00000682170.1:n.2241T>G
ENST00000682767.1:n.1357T>G
ENST00000316623.10:c.8060T>G MANE Select	ENSP00000325527.5:p.Val2687Gly
ENST00000674301.1:c.3226T>G	ENSP00000501333.1:n.3226T>G
ENST00000316623.9:c.8060T>G	ENSP00000325527.5:p.Val2687Gly
ENST00000559133.5:c.3429T>G
ENST00000561429.1:n.315T>G
NM_000138.4:c.8060T>G , LRG_778t1:c.8060T>G	NP_000129.3:p.Val2687Gly
NM_000138.5:c.8060T>G MANE Select	NP_000129.3:p.Val2687Gly