Canonical Allele Identifier: CA392321375

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704875T>C (hg19) ; chr15:g.48412678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412678T>C , CM000677.2:g.48412678T>C	GRCh38
NC_000015.9:g.48704875T>C , CM000677.1:g.48704875T>C	GRCh37
NC_000015.8:g.46492167T>C	NCBI36
NG_008805.2:g.238111A>G , LRG_778:g.238111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*925A>G	ENSP00000453958.2:n.*925A>G
ENST00000674301.2:c.*1630A>G	ENSP00000501333.2:n.*1630A>G
ENST00000682158.1:n.1498A>G
ENST00000682170.1:n.2298A>G
ENST00000682767.1:n.1414A>G
ENST00000316623.10:c.8117A>G MANE Select	ENSP00000325527.5:p.Asp2706Gly
ENST00000674301.1:c.3283A>G	ENSP00000501333.1:n.3283A>G
ENST00000316623.9:c.8117A>G	ENSP00000325527.5:p.Asp2706Gly
ENST00000559133.5:c.3486A>G
ENST00000561429.1:n.372A>G
NM_000138.4:c.8117A>G , LRG_778t1:c.8117A>G	NP_000129.3:p.Asp2706Gly
NM_000138.5:c.8117A>G MANE Select	NP_000129.3:p.Asp2706Gly