Canonical Allele Identifier: CA392320230
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766515T>G (hg19) chr15:g.48474318T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474318T>G , CM000677.2:g.48474318T>G GRCh38
NC_000015.9:g.48766515T>G , CM000677.1:g.48766515T>G GRCh37
NC_000015.8:g.46553807T>G NCBI36
NG_008805.2:g.176471A>C , LRG_778:g.176471A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4147A>C ENSP00000453958.2:p.Thr1383Pro
ENST00000674301.2:c.4147A>C ENSP00000501333.2:p.Thr1383Pro
ENST00000684448.1:n.2821A>C
ENST00000316623.10:c.4147A>C MANE Select ENSP00000325527.5:p.Thr1383Pro
ENST00000316623.9:c.4147A>C ENSP00000325527.5:p.Thr1383Pro
ENST00000537463.6:c.819A>C ENSP00000440294.2:p.Ile273=
NM_000138.4:c.4147A>C , LRG_778t1:c.4147A>C NP_000129.3:p.Thr1383Pro
NM_000138.5:c.4147A>C MANE Select NP_000129.3:p.Thr1383Pro
Search 100 bp 5'
Search 100 bp 3'