Canonical Allele Identifier: CA392320306
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766539T>G (hg19) chr15:g.48474342T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474342T>G , CM000677.2:g.48474342T>G GRCh38
NC_000015.9:g.48766539T>G , CM000677.1:g.48766539T>G GRCh37
NC_000015.8:g.46553831T>G NCBI36
NG_008805.2:g.176447A>C , LRG_778:g.176447A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4123A>C ENSP00000453958.2:p.Ser1375Arg
ENST00000674301.2:c.4123A>C ENSP00000501333.2:p.Ser1375Arg
ENST00000684448.1:n.2797A>C
ENST00000316623.10:c.4123A>C MANE Select ENSP00000325527.5:p.Ser1375Arg
ENST00000316623.9:c.4123A>C ENSP00000325527.5:p.Ser1375Arg
ENST00000537463.6:c.795A>C ENSP00000440294.2:p.Ala265=
NM_000138.4:c.4123A>C , LRG_778t1:c.4123A>C NP_000129.3:p.Ser1375Arg
NM_000138.5:c.4123A>C MANE Select NP_000129.3:p.Ser1375Arg
Search 100 bp 5'
Search 100 bp 3'