Canonical Allele Identifier: CA490118822
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703268T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411071T>A , CM000677.2:g.48411071T>A GRCh38
NC_000015.9:g.48703268T>A , CM000677.1:g.48703268T>A GRCh37
NC_000015.8:g.46490560T>A NCBI36
NG_008805.2:g.239718A>T , LRG_778:g.239718A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1343A>T ENSP00000453958.2:n.*1343A>T
ENST00000682158.1:n.1916A>T
ENST00000682170.1:n.2716A>T
ENST00000682767.1:n.1832A>T
ENST00000316623.10:c.8535A>T MANE Select ENSP00000325527.5:p.Leu2845=
ENST00000316623.9:c.8535A>T ENSP00000325527.5:p.Leu2845=
ENST00000559133.5:c.3904A>T
NM_000138.4:c.8535A>T , LRG_778t1:c.8535A>T NP_000129.3:p.Leu2845=
NM_000138.5:c.8535A>T MANE Select NP_000129.3:p.Leu2845=