Canonical Allele Identifier: CA490021617
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48786432C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48494235C>A , CM000677.2:g.48494235C>A GRCh38
NC_000015.9:g.48786432C>A , CM000677.1:g.48786432C>A GRCh37
NC_000015.8:g.46573724C>A NCBI36
NG_008805.2:g.156554G>T , LRG_778:g.156554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2697G>T ENSP00000453958.2:p.Gly899=
ENST00000674301.2:c.2697G>T ENSP00000501333.2:p.Gly899=
ENST00000684448.1:n.1371G>T
ENST00000316623.10:c.2697G>T MANE Select ENSP00000325527.5:p.Gly899=
ENST00000316623.9:c.2697G>T ENSP00000325527.5:p.Gly899=
ENST00000537463.6:c.637-19585G>T ENSP00000440294.2:n.637-19585G>T
NM_000138.4:c.2697G>T , LRG_778t1:c.2697G>T NP_000129.3:p.Gly899=
NM_000138.5:c.2697G>T MANE Select NP_000129.3:p.Gly899=