Canonical Allele Identifier: CA392318895

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703332G>C (hg19) ; chr15:g.48411135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411135G>C , CM000677.2:g.48411135G>C	GRCh38
NC_000015.9:g.48703332G>C , CM000677.1:g.48703332G>C	GRCh37
NC_000015.8:g.46490624G>C	NCBI36
NG_008805.2:g.239654C>G , LRG_778:g.239654C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1279C>G	ENSP00000453958.2:n.*1279C>G
ENST00000674301.2:c.*1984C>G	ENSP00000501333.2:n.*1984C>G
ENST00000682158.1:n.1852C>G
ENST00000682170.1:n.2652C>G
ENST00000682767.1:n.1768C>G
ENST00000316623.10:c.8471C>G MANE Select	ENSP00000325527.5:p.Ala2824Gly
ENST00000674301.1:c.3637C>G	ENSP00000501333.1:n.3637C>G
ENST00000316623.9:c.8471C>G	ENSP00000325527.5:p.Ala2824Gly
ENST00000559133.5:c.3840C>G
NM_000138.4:c.8471C>G , LRG_778t1:c.8471C>G	NP_000129.3:p.Ala2824Gly
NM_000138.5:c.8471C>G MANE Select	NP_000129.3:p.Ala2824Gly