Canonical Allele Identifier: CA392317573
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48764769C>T (hg19) chr15:g.48472572C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472572C>T , CM000677.2:g.48472572C>T GRCh38
NC_000015.9:g.48764769C>T , CM000677.1:g.48764769C>T GRCh37
NC_000015.8:g.46552061C>T NCBI36
NG_008805.2:g.178217G>A , LRG_778:g.178217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4315G>A ENSP00000453958.2:p.Ala1439Thr
ENST00000674301.2:c.4315G>A ENSP00000501333.2:p.Ala1439Thr
ENST00000683268.1:n.282G>A
ENST00000684448.1:n.2989G>A
ENST00000316623.10:c.4315G>A MANE Select ENSP00000325527.5:p.Ala1439Thr
ENST00000316623.9:c.4315G>A ENSP00000325527.5:p.Ala1439Thr
ENST00000537463.6:c.*78G>A ENSP00000440294.2:n.*78G>A
NM_000138.4:c.4315G>A , LRG_778t1:c.4315G>A NP_000129.3:p.Ala1439Thr
NM_000138.5:c.4315G>A MANE Select NP_000129.3:p.Ala1439Thr
Search 100 bp 5'
Search 100 bp 3'