Canonical Allele Identifier: CA392445809
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48829823T>G (hg19) chr15:g.48537626T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48537626T>G , CM000677.2:g.48537626T>G GRCh38
NC_000015.9:g.48829823T>G , CM000677.1:g.48829823T>G GRCh37
NC_000015.8:g.46617115T>G NCBI36
NG_008805.2:g.113163A>C , LRG_778:g.113163A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.721A>C ENSP00000453958.2:p.Thr241Pro
ENST00000674301.2:c.721A>C ENSP00000501333.2:p.Thr241Pro
ENST00000316623.10:c.721A>C MANE Select ENSP00000325527.5:p.Thr241Pro
ENST00000316623.9:c.721A>C ENSP00000325527.5:p.Thr241Pro
ENST00000537463.6:c.636+85A>C ENSP00000440294.2:n.636+85A>C
NM_000138.4:c.721A>C , LRG_778t1:c.721A>C NP_000129.3:p.Thr241Pro
NM_000138.5:c.721A>C MANE Select NP_000129.3:p.Thr241Pro
Search 100 bp 5'
Search 100 bp 3'