Canonical Allele Identifier: CA490015179
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766732C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474535C>T , CM000677.2:g.48474535C>T GRCh38
NC_000015.9:g.48766732C>T , CM000677.1:g.48766732C>T GRCh37
NC_000015.8:g.46554024C>T NCBI36
NG_008805.2:g.176254G>A , LRG_778:g.176254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4080G>A ENSP00000453958.2:p.Lys1360=
ENST00000674301.2:c.4080G>A ENSP00000501333.2:p.Lys1360=
ENST00000684448.1:n.2754G>A
ENST00000316623.10:c.4080G>A MANE Select ENSP00000325527.5:p.Lys1360=
ENST00000316623.9:c.4080G>A ENSP00000325527.5:p.Lys1360=
ENST00000537463.6:c.752G>A ENSP00000440294.2:p.Ser251Asn
NM_000138.4:c.4080G>A , LRG_778t1:c.4080G>A NP_000129.3:p.Lys1360=
NM_000138.5:c.4080G>A MANE Select NP_000129.3:p.Lys1360=