Canonical Allele Identifier: CA490118740
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703229C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411032C>G , CM000677.2:g.48411032C>G GRCh38
NC_000015.9:g.48703229C>G , CM000677.1:g.48703229C>G GRCh37
NC_000015.8:g.46490521C>G NCBI36
NG_008805.2:g.239757G>C , LRG_778:g.239757G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1382G>C ENSP00000453958.2:n.*1382G>C
ENST00000682158.1:n.1955G>C
ENST00000682170.1:n.2755G>C
ENST00000682767.1:n.1871G>C
ENST00000316623.10:c.8574G>C MANE Select ENSP00000325527.5:p.Leu2858=
ENST00000316623.9:c.8574G>C ENSP00000325527.5:p.Leu2858=
ENST00000559133.5:c.3943G>C
NM_000138.4:c.8574G>C , LRG_778t1:c.8574G>C NP_000129.3:p.Leu2858=
NM_000138.5:c.8574G>C MANE Select NP_000129.3:p.Leu2858=