Canonical Allele Identifier: CA490308181
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48782085G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489888G>T , CM000677.2:g.48489888G>T GRCh38
NC_000015.9:g.48782085G>T , CM000677.1:g.48782085G>T GRCh37
NC_000015.8:g.46569377G>T NCBI36
NG_008805.2:g.160901C>A , LRG_778:g.160901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3045C>A ENSP00000453958.2:p.Ala1015=
ENST00000674301.2:c.3045C>A ENSP00000501333.2:p.Ala1015=
ENST00000684448.1:n.1719C>A
ENST00000316623.10:c.3045C>A MANE Select ENSP00000325527.5:p.Ala1015=
ENST00000316623.9:c.3045C>A ENSP00000325527.5:p.Ala1015=
ENST00000537463.6:c.637-15238C>A ENSP00000440294.2:n.637-15238C>A
NM_000138.4:c.3045C>A , LRG_778t1:c.3045C>A NP_000129.3:p.Ala1015=
NM_000138.5:c.3045C>A MANE Select NP_000129.3:p.Ala1015=