Canonical Allele Identifier: CA392340270
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48737699C>A (hg19) chr15:g.48445502C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445502C>A , CM000677.2:g.48445502C>A GRCh38
NC_000015.9:g.48737699C>A , CM000677.1:g.48737699C>A GRCh37
NC_000015.8:g.46524991C>A NCBI36
NG_008805.2:g.205287G>T , LRG_778:g.205287G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5791G>T ENSP00000453958.2:p.Val1931Phe
ENST00000674301.2:c.5791G>T ENSP00000501333.2:p.Val1931Phe
ENST00000684448.1:n.4465G>T
ENST00000316623.10:c.5791G>T MANE Select ENSP00000325527.5:p.Val1931Phe
ENST00000674301.1:c.790G>T ENSP00000501333.1:p.Val264Phe
ENST00000316623.9:c.5791G>T ENSP00000325527.5:p.Val1931Phe
ENST00000537463.6:c.*1554G>T ENSP00000440294.2:n.*1554G>T
ENST00000559133.5:c.1098G>T
NM_000138.4:c.5791G>T , LRG_778t1:c.5791G>T NP_000129.3:p.Val1931Phe
NM_000138.5:c.5791G>T MANE Select NP_000129.3:p.Val1931Phe
Search 100 bp 5'
Search 100 bp 3'